Abstract
The 23rd of September 1932 marks in history the foundation of modern Saudi Arabia, when a royal decree affirmed the unity of the nation and named the country the Kingdom of Saudi Arabia (KSA). Spreading over 2,150,000 km2, KSA occupies almost 80% of the Arabian Peninsula. It is surrounded by the Red Sea on the west and the Arabian Gulf on the east; the coastlines of which stretch more than 2,300 km. Along the Red Sea lies Tihama coastal plain, to the east of which is the chain of Sarawat Mountains that extend beyond the southern and northern borders of Saudi Arabia. In the central part of the country lies the Najd plateau where the capital city, Riyadh, is located. Deserts cover more than half the total area of Saudi Arabia; the largest is the Empty Quarter in the Eastern Province (Saudi Geographical Society).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Abanmi A, Joshi RK, Atukorala DN, Pedersen NB, Khamis OA (1994) Autosomal recessive epidermolysis bullosa simplex. A case report. Br J Dermatol 130(1):115–117
Abanmi A, Al Harthic F, Al Agla R, Khan HA, Tariq M (2005) Study of alanine-73 and aspartate-9 of HLA-C locus in Saudi psoriasis patients, using sequence-specific primers (PCR-SSP). J Biochem Mol Biol 38(3):350–353
Abanmi A, Al Harthi F, Al Baqami R, Al Assaf S, Zouman A, Arfin M, Tariq M (2006) Association of HLA loci alleles and antigens in Saudi patients with vitiligo. Arch Dermatol Res 298(7):347–352
Abanmi A, Al Harthi F, Zouman A, Kudwah A, Jamal MA, Arfin M, Tariq M (2008) Association of interleukin-10 gene promoter polymorphisms in Saudi patients with vitiligo. Dis Markers 24(1):51–57
Abdelaal MA, Anyaegbu CC, al Sobhi EM, al Baz NM, Hodan K (1999) Blood group phenotype distribution in Saudi Arabs. Afr J Med Med Sci 28(3–4):133–135
Abdelrahman S, Bin-Abbas B, Al-Ashwal A (2000) Wolcott–Rallison syndrome in a Saudi infant. Curr Pediatr Res 4:51–52
Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM (2000) Arthrogryposis, renal dysfunction and cholestasis syndrome. Saudi Med J 21(3):297–299
Abu-Amero KK, Al-Hamed MH, Al-Batniji FS (2003a) Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation. Blood Coagul Fibrinolysis 14(3):303–306
Abu-Amero KK, Wyngaard CA, Al-Boudari OM, Kambouris M, Dzimiri N (2003b) Lack of association of lipoprotein lipase gene polymorphisms with coronary artery disease in the Saudi Arab population. Arch Pathol Lab Med 127(5):597–600
Abu-Amero KK, Wyngaard CA, Dzimiri N (2003c) Prevalence and role of methylenetetrahydrofolate reductase 677 C→T and 1298 A→C polymorphisms in coronary artery disease in Arabs. Arch Pathol Lab Med 127(10):1349–1352
Abu-Amero KK, Wyngaard CA, Dzimiri N (2004a) Association of the platelet glycoprotein receptor IIIa (PlA1/PlA1) genotype with coronary artery disease in Arabs. Blood Coagul Fibrinolysis 15(1):77–79
Abu-Amero KK, Owaidah TM, Al Jefri A, Al-Ghonaium A, Fawaz IM, Al-Hamed MH (2004b) A novel splice site mutation in the WAS gene causes Wiskott–Aldrich syndrome in two siblings of a Saudi family. Blood Coagul Fibrinolysis 15(7):599–603
Abu-Amero KK, Al-Boudari OM, Mohamed GH, Dzimiri N (2005) Beta 3 adrenergic receptor Trp64Arg polymorphism and manifestation of coronary artery disease in Arabs. Hum Biol 77(6):795–802
Abu-Amero KK, Al-Boudari OM, Mohamed GH, Dzimiri N (2006a) T null and M null genotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking. BMC Med Genet 7:38
Abu-Amero KK, Al-Boudari OM, Mohamed GH, Dzimiri N (2006b) E-selectin S128R polymorphism and severe coronary artery disease in Arabs. BMC Med Genet 7:52
Abu-Amero KK, Ozand PT, Al-Dhalaan H (2006c) Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS. J Child Neurol 21(11):971–972
Abu-Amero KK, Al-Mohanna F, Al-Boudari OM, Mohamed GH, Dzimiri N (2007) The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease. BMC Med Genet 8:35
Abu-Amero KK, Larruga JM, Cabrera VM, González AM (2008) Mitochondrial DNA structure in the Arabian Peninsula. BMC Evol Biol 8:45
Abu-Amero KK, Dhalaan HA, Zayed ZA, Hellani A, Bosley TM (2009) Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. J Neurol Sci 276(1–2):22–26
Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Crowley WF Jr, Seminara SB (2003) A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3. J Clin Endocrinol Metab 88(6):2947–2950
Al Aboud K, Al Hawsawi K, Al Aboud D, Al Githami A (2002) Kindler syndrome in a Saudi kindred. Clin Exp Derm 27:673–676
Al-Alami JR, Tayeh MK, Najib DA, Abu-Rubaiha ZA, Majeed HA, Al-Khateeb MS, El-Shanti HI (2003) Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med J 24(10):1055–1059
Al-Ali AK, Al-Mustafa ZH, Al-Madan M, Qaw F, Al-Ateeq S (2002) Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Eastern Province of Saudi Arabia. Clin Chem Lab Med 40(8):814–816
Al-Ali AK, Al-Ateeq S, Imamwerdi BW, Al-Sowayan S, Al-Madan M, Al-Muhanna F, Bashaweri L, Qaw F (2005a) Molecular bases of beta-thalassemia in the Eastern Province of Saudi Arabia. J Biomed Biotechnol 2005(4):322–325
Al-Ali AK, Al-Muhana FA, Larbi EB, Abdulmohsen MF, Al-Sultan AI, Al-Maden MS, Al-Ateeq SA (2005b) Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia. Saudi Med J 26(12):1886–1888
Alangari A, Abobaker A, Kanegane H, Miyawaki T (2006) X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency. Eur J Pediatr 165(3):165–167
al Aqeel A, Ozand PT, Gascon G, Nester M, al Nasser M, Brismar J, Blau N, Hughes H, Subramanyan SB, Reynolds CT (1991) Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology 41(5):730–737
al Aqeel A, Rashed M, Ozand PT, Brismar J, Gascon GG, al Odaib A, Dabbagh O (1994) 3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. Brain Dev 16:23–32
Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA (2000) Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am J Med Genet 93(1):11–18
Al-Aqeel AI, Rashed MS, Ruiter JP, Al-Husseini HF, Al-Amoudi MS, Wanders RJ (2001) Carnitine palmityl transferase I deficiency. Saudi Med J 22(11):1025–1029
Al Aqeel AI, Rashid MS, Ruiter JP, Ijlst L, Wanders RJ (2003) A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. Clin Genet 64(2):163–165
Al-Awamy B, Niazi GA, Wilson JB, Huisman TH (1985) Hb Setif or alpha 2 94(G1)Asp–Tyr beta 2 observed in a Saudi Arabian family. Hemoglobin 9(1):87–90
Alazami AM, Al-Mayouf SM, Wyngaard CA, Meyer B (2006) Novel PRG4 mutations underlie CACP in Saudi families. Hum Mutat 27(2):213
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS (2008) Mutations in c2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 83(6):684–691
Al-Daghri NM, Al-Attas O, Patel A, Belyaev ND, Bartlett WA, Jones AF, Kumar S, Bain SC (2003) Association between the cholesteryl ester transfer protein TaqI-detectable B polymorphism and low high-density lipoprotein cholesterol concentration in Saudis. Clin Sci 105(4):467–472
Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS (2009a) Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A 149A(4):662–665
Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (2009b) Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. Neurogenetics 10(4):307–311
Al-Dayel F, Al-Rasheed M, Ibrahim M, Bu R, Bavi P, Abubaker J, Al-Jomah N, Mohamed GH, Moorji A, Uddin S, Siraj AK, Al-Kuraya K (2008) Polymorphisms of drug-metabolizing enzymes CYP1A1, GSTT and GSTP contribute to the development of diffuse large B-cell lymphoma risk in the Saudi Arabian population. Leuk Lymphoma 49(1):122–129
Al-Dirbashi OY, Jacob M, Al-Hassnan Z, El-Badaoui F, Rashed MS (2005) Diagnosis of methylmalonic acidemia from dried blood spots by HPLC and intramolecular-excimer fluorescence derivatization. Clin Chem 51(1):235–237
Al-Dirbashi OY, Jacob M, Al-Ahaidib LY, Al-Qahtani K, Rahbeeni Z, Al-Owain M, Rashed MS (2006) Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection. Clin Chim Acta 365(1–2):243–248
Al-Dirbashi OY, Abu-Amero KK, Alswaid AF, Hoffmann GF, Al-Qahtani K, Rashed MS (2007) LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene. J Inherit Metab Dis 30(4):611
Al-Dirbashi OY, Santa T, Rashed MS, Al-Hassnan Z, Shimozawa N, Chedrawi A, Jacob M, Al-Mokhadab M (2008) Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. J Lipid Res 49(8):1855–1862
Al-Elq AH (2008) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters. Saudi Med J 29(3):447–451
Al-Essa M, Rashed M, Ozand PT (1998a) Tyrosinemia type II: report of the first four cases in Saudi Arabia. Ann Saudi Med 18(5):466–468
Al Essa M, Al-Shamsan L, Rashed MS, Ozand PT (1998a) Alkaptonuria: case report and review of the literature. Ann Saudi Med 18(5):442–444
Al Essa M, Nounou R, Sakati N, Le Quesne G, Joshi S, Archibald A, Ozand PT (1998b) Wolman's disease: the King Faisal Specialist Hospital and Research Centre experience. Ann Saudi Med 18(2):120–124
Al Essa M, Sakati NA, Dabbagh O, Joshi S, Al Jishi EA, Rashed MS, Powe JE, Ozand PT (1998c) Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis. J Child Neurol 13(5):239–243
Al Essa M, Rashed M, Ozand PT (1998d) Saudi experience with classic homocystinuria. Ann Saudi Med 18(3):230–233
Al Essa M, Rahbeeni Z, Jumaah S, Joshi S, Al Jishi E, Rashed MS, Al Amoudi M, Ozand PT (1998e) Infectious complications of propionic acidemia in Saudi Arabia. Clin Genet 54(1):90–94
Al-Essa M, Bakheet S, Al-Shamsan L, Patay Z, Powe J, Ozand PT (1999a) 18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. Brain Dev 21(1):24–29
Al-Essa M, Dhaunsi GS, Rashed M, Ozand PT, Rahbeeni Z (1999b) Zellweger syndrome in Saudi Arabia and its distinct features. Clin Pediatr 38(2):77–86
Al-Essa MA, Al Amir A, Rashed M, Al Jishi E, Abutaleb A, Mobaireek K, Shin YS, Ozand PT (1999c) Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency. Brain Dev 21(5):345–349
Al-Essa MA, Chaves-Carballo E, Ozand PT (1999d) Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations. Pediatr Neurol 21(5):826–829
Al-Essa MA, Sakati NA, Bakheet SM, Patay ZJ, Dabbagh O, Chaves-Carbello E, Ozand PT (2000a) X-linked adrenoleukodystrophy. The Saudi experience. Saudi Med J 21(1):61–71
Al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT (2000b) Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease. J Perinatol 20(2):120–128
Al Fadley F, Al Manea W, Nykanen DG, Al Fadley A, Bulbul Z, Al Halees Z (2000) Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome? Cardiol Young 10(6):582–589
al-Fawaz IM, al-Mashhadani SA (1995) Congenital dyserythropoietic anaemia type I. Report of two siblings from Saudi Arabia. Acta Haematol 93(1):50–53
al-Gazali LI, Makia S, Azzam A, Hall CM (1995) Wolcott–Rallison syndrome. Clin Dysmorphol 4(3):227–233
Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Rashed MS (2006) Identification of the Prevalent MCAD Mutation in the Saudi Population. In: The 6th Meeting of the International Society for Neonatal Screening, 16–19 September 2006, Awaji, Japan
Al-Hassnan ZN, Al Budhaim M, Al-Owain M, Lach B, Al-Dhalaan H (2007a) Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. J Child Neurol 22(1):106–108
Al-Hassnan ZN, Teebi AS (2007b) Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome. Am J Med Genet 143A:521–527
Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK (2008) Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. J Neurol Sci 264(1–2):187–194
Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M (2009) Sphingolipid activator protein-B deficiency: Report of 9 patients and review of literature. J Child Neurol 24(12):1513–9
Al-Hilali A, Wulff K, Abdel-Razeq H, Saud KA, Al-Gaili F, Herrmann FH (2007) Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly. Thromb Haemost 97(4):542–545
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B (2004) Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet 124A:28–34
al-Jarallah AA, Salih MA, al Nasser MN, al Zamil FA, al Gethmi J (1996) Rett syndrome in Saudi Arabia: report of six patients. Ann Trop Paediatr 16(4):347–352
Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M (1999) Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. Clin Genet 55(6):444–449
Al-Jumah M, Majumdar R, Al-Rajeh S, Chaves-Carballo E, Salih MM, Awada A, Al-Shahwan S, Al-Uthaim S (2002) Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy. Saudi Med J 23(12):1478–1482
Al-Jumah M, Majumdar R, Al-Rajeh S, Awada A, Chaves-Carbello E, Salih M, Al-Shahwan S, Al-Subiey K, Al-Uthaim S (2003) Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy. Saudi Med J 24(10):1052–1054
Al Jumah M, Majumdar R, Al Rajeh S, Awada A, Al Zaben A, Al Traif I, Al Jumah AR, Rehana Z (2004) A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations. Eur J Neurol 11(2):121–124
Al Jumah M, Majumdar R, Rehana Z, Al Rajeh S, Eyaid W (2007) A pilot study of spinal muscular atrophy screening in Saudi Arabia. J Pediatr Neurol 5(3):221–224
al-Jurayyan NA (1995) Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics. Acta Paediatr 84(6):651–654
al Kandari H, Katsumata N, Alexander S, Rasoul MA (2006) Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. J Clin Endocrinol Metab 91(8):2821–2826
Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggvason K, Campbell KP (1997) Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Hum Mol Genet 6(5):747–752
Allanson J, Austin W, Hecht F (1986) Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality. Clin Genet 29(2):133–136
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15(3):236–246
Almawi WY, Keleshian SH, Borgi L, Fawaz NA, Abboud N, Mtiraoui N, Mahjoub T (2005) Varied prevalence of factor V G1691A (Leiden) and prothrombin G20210A single nucleotide polymorphisms among Arabs. J Thromb Thrombolysis 20(3):163–168
Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S (2000) New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. Am J Med Genet 93(1):5–10
Al-Mayouf SM, AlMehaidib A, Bahabri S, Shabib S, Sakati N, Teebi AS (2005) Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. Clin Exp Rheumatol 23(5):717–720
Al-Mutair A, Iqbal MA, Sakati N, Ashwal A (2004) Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients. Ann Saudi Med 24(5):368–372
al-Rabeeah A, al-Ashwal A, al-Herbish A, al-Jurayyan N, Sakati N, Abobakr A (1995) Persistent hyperinsulinemic hypoglycemia of infancy: experience with 28 cases. J Pediatr Surg 30(8):1119–1121
Al Rajeh S, el Mouzan MI, Ahlberg A, Ozaksoy D (1988) The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. Neuropediatrics 19(3):162–165
Al Rajeh S, Majumdar R, Awada A, Adeyokunnu A, Al Jumah M, Al Bunyan M, Snellen A (1998) Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients. J Neurol Sci 158(1):43–46
al Rashed AA, al-Jarallah AA, Salih MA, Kolawole T, al-Jarallah J (1999) Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. Ann Trop Paediatr 19(2):197–203
Al-Sayed M, Alahmed S, Alsmadi O, Khalil H, Rashed MS, Imtiaz F, Meyer BF (2005) Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis 28(6):877–883
Al-Sayed M, Imtiaz F, Alsmadi OA, Rashed MS, Meyer BF (2006) Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. BMC Med Genet 7:86
Alsbeih G, Al-Hadyan K, Al-Harbi N (2008) Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. Genet Test 12(3):387–389
Al-Semari A, Bohlega S (2007) Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. Am J Med Genet 143A:149–160
al-Shamsan L, al-Essa M, al-Mutair A, al-Ashwal A, Sakati N, Ozand PT (1998) Hyperinsulinism and hyperammonaemia. J Inherit Metab Dis 21(6):671–673
al-Sheikh I, Rahi A, al-Khalifa M (2000) Genotyping human platelet alloantigens (HPA 1–5) in Saudis from Eastern Province, Saudi Arabia. East Mediterr Health J 6(1):168–175
Al-Sheikh IH, Al-Khalifa MA, Rahi AS (2002) Frequency of neutrophil alloantigens by polymerase chain reaction. Saudi Med J 23(5):548–551
Alsmadi OA, Al-Kayal F, Al-Hamed M, Meyer BF (2006) Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study. BMC Med Genet 7:43
Alsmadi O, Al-Rubeaan K, Wakil SM, Imtiaz F, Mohamed G, Al-Saud H, Al-Saud NA, Aldaghri N, Mohammad S, Meyer BF (2008a) Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes. Diabetes Metab Res Rev 24(2):137–140
Alsmadi O, Al-Rubeaan K, Mohamed G, Alkayal F, Al-Saud H, Al-Saud NA, Al-Daghri N, Mohammad S, Meyer BF (2008b) Weak or no association of TCF7L2 variants with type 2 diabetes risk in an Arab population. BMC Med Genet 9:72
Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M (2009) Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet 17(1):14–21
Al-Tahan AY, Divakaran MP, Kambouris M, Bohlega S, Salih M, Ogunniyi A, Al-Ghanmi H (1999) A novel autosomal recessive ‘Huntington's disease-like’ neurodegenerative disorder in a Saudi family. Saudi Med J 20:85–89
Alzahrani AS, Baitei EY, Zou M, Shi Y (2006a) Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. J Clin Endocrinol Metab 91(3):740–746
Alzahrani AS, Baitei E, Zou M, Shi Y (2006b) Thiamine transporter mutation: an example of monogenic diabetes mellitus. Eur J Endocrinol 155(6):787–792
Alzahrani AS, Al-Khaldi N, Shi Y, Al-Rijjal RA, Zou M, Baitei EY, Amin T (2008) Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation. Endocr Pract 14(5):595–602
Ameyaw MM, Tayeb M, Thornton N, Folayan G, Tariq M, Mobarek A, Evans DA, Ofori-Adjei D, McLead HL (2002) Ethnic variation in the HER-2 codon 655 genetic polymorphism previously associated with breast cancer. J Hum Genet 47(4):172–175
Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome. Nature 425(6958):628–633
Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, Al-Ghonaium A, Al-Helali M, Hershfield MS (2002) Adenosine deaminase deficiency with mosaicism for a “second-site suppressor” of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood 99(3):1005–1013
Awad M, Al-Ashwal AA, Sakati N, Al-Abbad AA, Bin-Abbas BS (2002) Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J 23(1):25–29
Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (2003) Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72(3):650–658
Bahabri S, Sakati N, Hugosson C, Hainau B, Al-Balla SR, Al-Mazyed A, Al-Dalaan A (1994) Syndrome of camptodactyly, arthropathy and coxa vara (CAC syndrome). Ann Saudi Med 14(6):479–482
Bahabri SA, Suwairi WM, Laxer RM, Polinkovsky A, Dalaan AA, Warman ML (1998) The camptodactyly–arthropathy–coxa vara–pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum 41(4):730–735
Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I (1999) Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Ann Trop Paediatr 19(1):69–73
Barr DG, Kirk JM, al Howasi M, Wanders RJ, Schutgens RB (1993) Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. Arch Dis Child 68(3):415–417
Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 62(2):325–333
Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 9(3):367–374
Betz RC, Indelman M, Pforr J, Schreiner F, Bauer R, Bergman R, Lentze MJ, Nöthen MM, Cichon S, Sprecher E (2007) Identification of mutations in the human hairless gene in two new families with congenital atrichia. Arch Dermatol Res 299(3):157–161
Bhuiyan ZA, Momenah TS, Amin AS, Al-Khadra AS, Alders M, Wilde AA, Mannens MM (2008) An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange–Nielsen syndrome. Prog Biophys Mol Biol 98(2–3):319–327
Bin-Abbas B, Shabib S, Hainau B, Al-Ashwal A (2001) Wolcott–Rallison syndrome: clinical, radiological and histological findings in a Saudi child. Ann Saudi Med 21(1–2):73–74
Bin-Abbas B, Al-Mulhim A, Al-Ashwal A (2002) Wolcott–Rallison syndrome in two siblings with isolated central hypothyroidism. Am J Med Genet 111(2):187–190
Bin-Abbas BS, Al-Mulhim AN, Sakati NA, Al-Ashwal AA (2003) Persistent hyperinsulinemic hypoglycemia of infancy in 38 children. Saudi Med J 24(8):890–894
Bin-Abbas BS, Sakati NA, Al-Ashwal AA (2004a) Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up. Saudi Med J 25(9):1293–1295
Bin-Abbas BS, Al-Ashwal AA, Al-Alwan IA, Al-Qahtani MH, Al-Mutair AN, Sakati NA (2004b) The syndrome of septo-optic dysplasia in Saudi children. Saudi Med J 25(11):1675–1678
Bo-Abbas Y, Acierno JS Jr, Shagoury JK, Crowley WF Jr, Seminara SB (2003) Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes. J Clin Endocrinol Metab 88(6):2730–2737
Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP (2003a) Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian Peninsula. Mov Disord 18(4):403–407
Bohlega S, Lach B, Meyer BF, Al Said Y, Kambouris M, Al Homsi M, Cupler EJ (2003b) Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. Neurology 61(11):1519–1523
Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF (2004) Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 62(9):1518–1521
Bohlega S, Al Shubili A, Edris A, Alreshaid A, Alkhairallah T, AlSous MW, Farah S, Abu-Amero KK (2007) CADASIL in Arabs: clinical and genetic findings. BMC Med Genet 8:67
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP (2000) Charcot–Marie–Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25(1):17–19
Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck D, Abu-Amero KK, MacDonald DB, al Zayed Z, al Dhalaan H, Kansu T, Stigsby B, Baloh RW (2005) Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology 64(7):1196–1203
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC (2007) Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology 69(12):1245–1253
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP (2008) The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet 146A:1235–1240
Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW (2003) A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13–q21. Hum Genet 113(1):1–9
Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W (2006) Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet 38(10):1192–1197
Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA (2003) Wolcott–Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. J Med Genet 40(9):685–689
Brismar J, Brismar G, Gascon G, Ozand P (1990a) Canavan disease: CT and MR imaging of the brain. Am J Neuroradiol 11(4):805–810
Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P (1990b) Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants. Am J Neuroradiol 11(6):1219–1228
Brismar J, Ozand PT (1994) CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Am J Neuroradiol 15(8):1459–1473
Brismar J, Ozand PT (1995) CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients. Am J Neuroradiol 16(4):675–683
Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M (2006) GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology 67(2):273–279
Burnichon N, Lacan P, Becchi M, Zanella-Cleon I, Aubry M, Mowafy M, Couprie N, Francina A (2006) A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh (alpha75(EF4)Asp→Val (alpha2)). Hemoglobin 30(2):155–164
Cagatay P, Susleyici-Duman B, Ciftci C (2007) Lipoprotein lipase gene PvuII polymorphism serum lipids and risk for coronary artery disease: meta-analysis. Dis Markers 23(3):161–166
Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A (2007) C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 61(4):340–351
Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, Butt AI, Meyer BF (2006) Novel mutations underlying nephrogenic diabetes insipidus in Arab families. Genet Med 8(7):443–447
Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP (1996) Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 12(3):248–253
Chen X, Baker BY, Abduljabbar MA, Miller WL (2005) A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab 90(2):835–840
Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, St George-Hyslop P, Westaway D, Rogaeva E (2006) T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. Arch Neurol 63(10):1483–1485
Clayton PT, Leonard JV, Lawson AM, Setchell KD, Andersson S, Egestad B, Sjövall J (1987) Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta, 7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest 79(4):1031–1038
Cogan JD, Phillips JA 3rd, Sakati N, Frisch H, Schober E, Milner RD (1993) Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab 76(5):1224–1228
Cook JD, Gascon GG, Haider A, Coates R, Stigsby B, Ozand PT, Banna M (1992) Congenital muscular dystrophy with abnormal radiographic myelin pattern. J Child Neurol 7(Suppl):S51–S63
Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V (2004) ADAMTS10 mutations in autosomal recessive Weill–Marchesani syndrome. Am J Hum Genet 75(5):801–806
Degheishem SM, Sedrani SH, Van Baelen H, Bouillon R, Duhaiman AS (1991) Distribution of group-specific component/vitamin-D-binding protein subtypes in Saudi Arabia. Hum Hered 41(1):53–56
de Saint Basile G (2007) Inherited hemophagocytic syndromes. In: Ochs HD, Smith CIE, Puck JM (eds) Primary immunodeficiency diseases: a molecular and genetic approach, 2nd edn. Oxford University Press, New York, pp 578–588
de Serres FJ, Blanco I, Fernández-Bustillo E (2006) Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in Asia. Eur Respir J 28(6):1091–1099
Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S (2005) Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet 37(11):1247–1252
Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, Aynsley-Green A, Lu S, Clement JP 4th, Lindley KJ, Seino S, Aguilar-Bryan L (1997) Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 336(10):703–706
Dzimiri N, Basco C, Moorji A, Meyer BF (2000) Angiotensin-converting enzyme polymorphism and the risk of coronary heart disease in the Saudi male population. Arch Pathol Lab Med 124(4):531–534
El-Harith EH, Stuhrmann M, Dork T, Eskandarani HA, Schmidtke J (1998) PCR-based analysis of cystic fibrosis mutations specific for Saudi patients. Saudi Med J 19:148–152
El-Harith el-HA, Abdel-Hadi MS, Steinmann D, Dork T (2002) BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia. Saudi Med J 23(6):700–704
El-Harith el-HA, Kühnau W, Schmidtke J, Gadzicki D, Ahmed M, Krawczak M, Stuhrmann M (2006) Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality. Eur J Med Genet 49(4):323–330
El-Hazmi MA, Lehmann H (1980) Human haemoglobins and haemoglobinopathies in Arabia: Hb O Arab in Saudi Arabia. Acta Haematol 63(5):268–273
el-Hazmi MA, Warsy AS (1985) Glutathione reductase deficiency in association with sickle cell and thalassaemia genes in Saudi populations. Hum Hered 35(5):326–332
el-Hazmi MA (1986a) Beta-globin gene polymorphism in the Saudi Arab population. Hum Genet 73(1):31–34
el-Hazmi MA, Al-Swailem AR, Al-Faleh FZ, Warsy AS (1986b) Frequency of glucose-6-phosphate dehydrogenase, pyruvate kinase and hexokinase deficiency in the Saudi population. Hum Hered 36(1):45–49
el-Hazmi MA (1987a) Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status. Acta Haematol 78(2–3):130–134
el-Hazmi MA (1987b) Alpha-thalassemia in Saudi Arabia: deletion pattern. Hum Genet 76(2):196–198
el-Hazmi MA (1989) Xmn I polymorphism in the gamma-globin gene region among Saudis. Hum Hered 39(1):12–19
el-Hazmi MA, Warsy AS (1990) Frequency of glucose-6-phosphate dehydrogenase variants and deficiency in Arabia. Gene Geogr 4(1):15–19
el-Hazmi MA (1992a) Heterogeneity and variation of clinical and haematological expression of haemoglobin S in Saudi Arabs. Acta Haematol 88(2–3):67–71
el-Hazmi MA, Warsy AS (1992b) Triple alpha-genes (alpha alpha alpha anti3.7) in a patient with sickle cell anaemia. Hum Hered 42(6):360–366
el-Hazmi MA, Bahakim HM, Warsy AS (1992c) DNA polymorphism in the beta-globin gene cluster in Saudi Arabs: relation to severity of sickle cell anaemia. Acta Haematol 88(2–3):61–66
el-Hazmi MA, al-Swailem AR, Warsy AS, al-Swailem AM, Sulaimani R, al-Meshari AA (1995a) Consanguinity among the Saudi Arabian population. J Med Genet 32:623–626
el-Hazmi MA, al-Swailem AR, Warsy AS (1995b) Molecular defects in beta-thalassaemias in the population of Saudi Arabia. Hum Hered 45(5):278–285
el-Hazmi MA, Warsy AS (1996) Frequency of sickle cell gene in Arabia. Gene Geogr 10(2):87–91
el-Hazmi MA, Warsy AS (1999) Appraisal of sickle-cell and thalassaemia genes in Saudi Arabia. East Mediterr Health J 5(6):1147–1153
El-Mouzan MI, Al-Salloum AA, Al-Herbish AS, Qurachi MM, Al-Omar AA (2007) Regional variations in the prevalence of consanguinity in Saudi Arabia. Saudi Med J 28(12):1881–1884
Elseed FA, Karrar ZA (1984) Congenital afibrinogenaemia in a Saudi family: a case report and family study. Acta Haematol 71(6):388–392
Enattah NS, Jensen TG, Nielsen M, Lewinski R, Kuokkanen M, Rasinpera H, El-Shanti H, Seo JK, Alifrangis M, Khalil IF, Natah A, Ali A, Natah S, Comas D, Mehdi SQ, Groop L, Vestergaard EM, Imtiaz F, Rashed MS, Meyer B, Troelsen J, Peltonen L (2008) Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture. Am J Hum Genet 82(1):57–72
Engle EC, Wang SM, Zwaan JT, Mullaney PB, Jabak MH, Beggs AH (1997) Linkage and homozygosity mapping of a variant of congenital fibrosis of the extraocular muscles to chromosome 11q13.1. Am J Hum Genet 61(Suppl):A30 (abstract)
Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V (2002) Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3–p13.2. Hum Genet 110(4):366–370
Faiyaz-Ul-Haque M, Faqeih EA, Al-Zaidan H, Al-Shammary A, Zaidi SH (2008) Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5. J Bone Miner Metab 26(6):648–652
Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS (2009a) A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Atherosclerosis 203(2):466–471
Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH (2009b) Novel FBP1 gene mutations in Arab patients with fructose-1, 6-bisphosphatase deficiency. Eur J Pediatr 168(12):1467–71
Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet–Biedl syndrome. Nat Genet 36(9):989–993
Faqeih E, Al-Akash SI, Sakati N, Teebi PA (2007) Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome. Am J Med Genet A 143A(17):1951–1957
Faqeih E, Sakati N, Teebi AS (2008) Meier–Gorlin (ear–patella–short stature) syndrome: growth hormone deficiency and previously unrecognized findings. Am J Med Genet 137A:339–341
Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 36(9):1008–1013
Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M (2005) Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet 14(2):307–318
Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A 98(22):12614–12619
Gascon GG, Ozand PT, Erwin RE (1992a) GM1 gangliosidosis type 2 in two siblings. J Child Neurol 7(Suppl):S41–S50
Gascon GG, Youssef NG, Subramanyam SB, Ozand PT (1992b) Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family. J Child Neurol 7(Suppl):S73–S78
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome. Nat Genet 36(4):400–404
Goedde HW, Benkmann HG, Agarwal DP, Hirth L, Bienzle U, Dietrich M, Hoppe HH, Orlowski J, Kohne E, Kleihauer E (1979) Genetic studies in Saudi Arabia: red cell enzyme, haemoglobin and serum protein polymorphisms. Am J Phys Anthropol 50(2):271–277
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 83(5):559–571
Gribaa M, Salih M, Anheim M, Lagier-Tourenne C, H'mida D, Drouot N, Mohamed A, Elmalik S, Kabiraj M, Al-Rayess M, Almubarak M, Bétard C, Goebel H, Koenig M (2007) A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21–q23. Brain 130(Pt 7):1921–1928
Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40(2):232–236
Gripp KW, Donnai D, Clericuzio CL, McDonald-McGinn DM, Guttenberg M, Zackai EH (1997) Diaphragmatic hernia–exomphalos–hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. Am J Med Genet 68(4):441–444
Grody WW, Klein D, Dodson AE, Kern RM, Wissmann PB, Goodman BK, Bassand P, Marescau B, Kang SS, Leonard JV et al (1992) Molecular genetic study of human arginase deficiency. Am J Hum Genet 50(6):1281–1290
Haider N, Salih MA, Al-Rasheed S, Al-Mofada S, Krahn PM, Kabiraj M (1996) Nonketotic hyperglycinemia: a life-threatening disorder in Saudi Newborns. Ann Saudi Med 16(4):400–404
Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA (2002) Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 11(7):833–840
Harfi HA, Brismar J, Hainau B, Sabbah R (1992) Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. Allergy Proc 13(6):321–328
Harrison DA, Mullaney PB, Mesfer SA, Awad AH, Dhindsa H (1998) Management of ophthalmic complications of homocystinuria. Ophthalmology 105(10):1886–1890
Hasounah FH, Sejeny SA, Omer JA, Old JM, Oliver RW (1995) Spectrum of beta-thalassaemia mutations in the population of Saudi Arabia. Hum Hered 45(4):231–234
Hellani A, Schuchman EH, Al-Odaib A, Al Aqueel A, Jaroudi K, Ozand P, Coskun S (2004) Preimplantation genetic diagnosis for Niemann–Pick disease type B. Prenat Diagn 24(12):943–948
Henriquez H, el Din A, Ozand PT, Subramanyam SB, al Gain SI (1994) Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). Brain Dev 16(Suppl):86–93
Hirth L, Benkmann HG, Goedde HW (1979) The distribution of human Gm-globulin and Inv-allotypes in populations of Egypt, Saudi-Arabia, Afghanistan and Ecuador. Z Morphol Anthropol 70(2):174–180
Hodgkinson CA, Bohlega S, Abu-Amero SN, Cupler E, Kambouris M, Meyer BF, Bharucha VA (2002) A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59(12):1905–1909
Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, Kere J (1998) Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. Am J Hum Genet 63(3):760–768
Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA (2000) Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 26(1):93–96
Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML (1999) Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet 23(1):94–98
Hussain SS, Buraiki J, Dzimiri N, Butt AI, Vencer L, Basco MC, Khan B (1999) Polymorphism in apoprotein-CIII gene and coronary heart disease. Ann Saudi Med 19(3):201–205
Iqbal MA, Sakati N, Nester M, Ozand P (2000) Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia. Ann Saudi Med 20(3–4):214–217
Imtiaz F, Savilahti E, Sarnesto A, Trabzuni D, Al-Kahtani K, Kagevi I, Rashed MS, Meyer BF, Järvelä I (2007) The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population. J Med Genet 44(10):e89
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20(2):143–148
Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC (2004) Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 304(5676):1509–1513
Johansen K, Dunn B, Tan JC, Kwaasi AA, Skotnicki A, Skotnicki M (1991) Coronary artery disease and apolipoprotein A-I/C-III gene polymorphism: a study of Saudi Arabians. Clin Genet 39(1):1–5
Joshi S, al-Essa MA, Archibald A, Ozand PT (1999) Biotinidase deficiency: a treatable genetic disorder in the Saudi population. East Mediterr Health J 5(6):1213–1217
Kambouris M, Bohlega S, Al-Tahan A, Meyer BF (2000a) Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 66(2):445–452
Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF (2000b) Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations. Eur J Pediatr 159(5):303–309
Karkashan EM, Joharji HS, Al-Harbi NN (2002) Congenital insensitivity to pain in four related Saudi families. Pediatr Dermatol 19:333–335
Karrar ZA, Elidrissy AT, Al Arabi K, Adam KA (1983) The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. Clin Genet 23(4):308–310
Katol J, Takao M, Ideguchi H, Sawada H, Kawashima H, Ono J (2006) Genetic screening for alpha-thalassemia deletional determinants by GapPCR method. Rinsho Byori 54(11):1095–1100
Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR (2001) Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet 59(6):424–429
Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR (2002) BBS4 is a minor contributor to Bardet–Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet 71(1):22–29
Kaya N, Al-Zahrani F, Al-Odaib A, Rahbeeni Z, Al-Hassnan Z, Al-Sharif F, Ozand P, Al-Sayed M (2008a) Identification of Gaucher disease mutations found in Saudi Arabia. Blood Cells Mol Dis 41(2):200–201
Kaya N, Imtiaz F, Colak D, Al-Sayed M, Al-Odaib A, Al-Zahrani F, Al-Mubarak BR, Al-Owain M, Al-Dhalaan H, Chedrawi A, Al-Hassnan Z, Coskun S, Sakati N, Ozand P, Meyer BF (2008b) Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease. Genet Med 10(9):675–684
Kelly TE, Blanton S, Saif R, Sanjad SA, Sakati NA (2000) Confirmation of the assignment of the Sanjad–Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome 1q42–43. J Med Genet 37(1):63–64
Khan AO, Shamsi FA, Al-Saif A, Kambouris M (2004) A novel missense Norrie disease mutation associated with a severe ocular phenotype. J Pediatr Ophthalmol Strabismus 41(6):361–363
Khan AO, Alam SK, Aldahmesh M, Rajab M, Meyer B (2006a) Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. Ophthalmic Genet 27(3):79–82
Khan AO, Aldahmesh M, Meyer B (2006b) Recessive cornea plana in the Kingdom of Saudi Arabia. Ophthalmology 113(10):1773–1778
Khan AO, Aldahmesh MA, Meyer B (2007) Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). Am J Ophthalmol 144(6):949–952
Khan AO, Oystreck DT, Al-Tassan N, Al-Sharif L, Bosley TM (2008) Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu). Ophthalmology 115(12):2262–2265
Knox-Macaulay HH, Bashawri L, Davies KE (1993) X linked recessive thrombocytopenia. J Med Genet 30(11):968–969
Kozma C, Scribanu N, Gersh E (1996) The microcephaly–lymphoedema syndrome: report of an additional family. Clin Dysmorphol 5(1):49–54
Kulozik AE, Wainscoat JS, Serjeant GR, Kar BC, Al-Awamy B, Essan GJ, Falusi AG, Haque SK, Hilali AM, Kate S et al (1986) Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. Am J Hum Genet 39(2):239–244
Lanes R, Plotnick LP, Bynum TE, Lee PA, Casella JF, Fox CE, Kowarski AA, Migeon CJ (1980) Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. J Clin Endocrinol Metab 50(2):268–270
Lehmann H, Maranjian G, Mourant AE (1963) Distribution of sickel cell haemoglobin in Saudi Arabia. Nature 198:492–493
Lestringant GG, Berge T (1989) Porokeratosis punctata palmaris et plantaris. A new entity? Arch Dermatol 125(6):816–819
Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117(4):541–552
Lin NU, Malloy PJ, Sakati N, al-Ashwal A, Feldman D (1996) A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. J Clin Endocrinol Metab 81(7):2564–2569
Mahmoud AA, Yousef GM, Al-Hifzi I, Diamandis EP (2002) Cockayne syndrome in three sisters with varying clinical presentation. Am J Med Genet 111(1):81–85
Majumdar R, Al Jumah M, Al Rajeh S, Fraser M, Al Zaben A, Awada A, Al Traif I, Paterson M (2000) A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease. J Neurol Sci 179(S1–2):140–143
Majumdar R, Al Jumah M, Fraser M (2003) 4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers. Mol Pathol 56(5):302–304
Mardini MK, Ghandour M, Sakati NA, Nyhan WL (1978) Johanson–Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 14(5):247–250
Mallouh A, Sa'di AR, Ahmad MS, Salamah M (1984) Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. Am J Med Genet 18(3):413–417
Malloy PJ, Xu R, Peng L, Peleg S, Al-Ashwal A, Feldman D (2004) Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function. Endocrinology 145(11):5106–5114
Markley KM, Elkhalifa M, Maini A, Hoyer JD (2008) Hb Jeddah (alpha68(E17)Asn→His (alpha1)): a newly recognized alpha chain variant, seen in combination with Hb S (beta6(A3)Glu→Val), and found in three separate families of middle eastern origin. Hemoglobin 32(3):297–302
Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ (2001) Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet 28(3):261–265
Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82(6):1281–1289
Mathew PM, Young JM, Abu-Osba YK, Mulhern BD, Hammoudi S, Hamdan JA, Sa'di AR (1988) Persistent neonatal hyperinsulinism. Clin Pediatr 27(3):148–151
Mattoo TK (1998) Genetically transmitted renal diseases in children: a Saudi perspective. Saudi J Kidney Dis Transpl 9(2):105–109
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H (2008) Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndrome. Brain 131(Pt 3):747–759
Miller BA, Olivieri N, Salameh M, Ahmed M, Antognetti G, Huisman TH, Nathan DG, Orkin SH (1987) Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia. N Engl J Med 316(5):244–250
Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plöchl E, Miziorko H (1998) HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. Am J Hum Genet 62(2):295–300
Morgan JC, Scott DF, Lanclos KD (1996) Two mutations in the locus control region hypersensitivity site-2 (5′ HS-2) of haplotype 19 beta s chromosomes alter binding of trans-acting factors. Am J Hematol 51(1):12–18
Mufti MH, Wood SK (1987) Ectrodactyly in sisters and half sisters. J Med Genet 24(4):220–224
Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E (2002) Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol 46(4):510–516
Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC (2001) Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 29(3):315–320
Narchi H (1997) Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. Pediatrics 99(5):745–748
Nazer H, Riff E, Sakati N, Mathew R, Majeed-Saidan MA, Harfi H (1989) Cystic fibrosis in Saudi Arabia. Eur J Pediatr 148(4):330–332
Nazer H, Gunasekaran TS, Sakati NA, Nyhan WL (1990) Concurrence of Robinow syndrome and Crigler–Najar syndrome in two offspring of first cousins. Am J Med Genet 37(4):516–518
Niazi GA, Yaish HM, Kutlar F, Huisman TH (1991) Heterogeneity of gamma-globin chain synthesis in Saudi newborns. Int J Hematol 54(5):377–383
Ohlsson A, Stark G, Sakati N (1980) Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. Dev Med Child Neurol 22:72–84
Ohlsson A, Cumming WA, Paul A, Sly WS (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77:371–381
Ozand PT, Gascon G, al Aqeel A, Roberts G, Dhalla M, Subramanyam SB (1990a) Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J Inherit Metab Dis 13(6):849–861
Ozand PT, Gascon GG, Dhalla M (1990b) Aspartoacylase deficiency and Canavan disease in Saudi Arabia. Am J Med Genet 35(2):266–268
Ozand PT, Devol EB, Gascon GG (1992a) Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. J Child Neurol 7(Suppl):S4–S11
Ozand PT, Gascon GG (1992b) Heterogeneity of carboxypeptidase activity in infantile-onset galactosialidosis. J Child Neurol 7(Suppl):S31–S40
Ozand PT, Rashed M, Gascon GG, Youssef NG, Harfi H, Rahbeeni Z, al Garawi S, al Aqeel A (1994a) Unusual presentations of propionic acidemia. Brain Dev 16(Suppl):46–57
Ozand PT, Rashed M, Gascon GG, al Odaib A, Shums A, Nester M, Brismar J (1994b) 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms. Brain Dev 16(Suppl):38–45
Ozand PT, Nyhan WL, al Aqeel A, Christodoulou J (1994c) Malonic aciduria. Brain Dev 16(1):7–11
Ozand PT, Gascon GG, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O (1998) Biotin-responsive basal ganglia disease: a novel entity. Brain 121(Pt 7):1267–1279
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD, HRD/Autosomal Recessive Kenny–Caffey Syndrome Consortium (2002) Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. Nat Genet 32(3):448–452
Pasternack SM, von Kügelgen I, Aboud KA, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC (2008) G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet 40(3):329–334
Pembrey ME, Perrine RP, Wood WG, Weatherall DJ (1980) Sickle beta 0 thalassemia in Eastern Saudi Arabia. Am J Hum Genet 32(1):26–41
Pernasetti F, Milner RD, al Ashwal AA, de Zegher F, Chavez VM, Muller M, Martial JA (1998) Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency. J Clin Endocrinol Metab 83(6):2079–2083
Phillips JA 3rd, Cogan JD (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 78(1):11–16
Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Génin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL (2002) Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 70(2):336–348
Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL (2003) Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299(5615):2076–2079
Pomponio RJ, Ozand PT, Al Essa M, Wolf B (2000) Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. J Inherit Metab Dis 23(2):185–187
Prasad RS, Pejaver RK, Hassan A, al Dusari S, Wooldridge MA (1994) Management and follow-up of harlequin siblings. Br J Dermatol 130(5):650–653
Pressley L, Higgs DR, Clegg JB, Perrine RP, Pembrey ME, Weatherall DJ (1980) A new genetic basis for hemoglobin-H disease. N Engl J Med 303(24):1383–1388
Price Evans DA, Salah KA, Mobrad MA, Mitchell WD, Olin M, Eggertsen G (2007) Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up. Saudi Med J 28(7):1113–1118
Quadri MI, Islam SI, Nasserullah Z (2000) The effect of alpha-thalassemia on cord blood red cell indices and interaction with sickle cell gene. Ann Saudi Med 20(5–6):367–370
Raef H, Baitei EY, Zou M, Shi Y (2008) Genotype–phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism. Eur J Endocrinol 158(4):577–582
Rahbeeni Z, Ozand PT, Rashed M, Gascon GG, al Nasser M, al Odaib A, Amoudi M, Nester M, al Garawi S, Brismar J (1994) 4-Hydroxybutyric aciduria. Brain Dev 16(Suppl):64–71
Rahbeeni Z, Vaz FM, Al-Hussein K, Bucknall MP, Ruiter J, Wanders RJ, Rashed MS (2002) Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency. J Inherit Metab Dis 25(5):363–369
Rashed M, Ozand PT, al Aqeel A, Gascon GG (1994) Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders. Brain Dev 16(Suppl):1–6
Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P (1995a) Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41(8(Pt 1)):1109–1114
Rashed MS, Ozand PT, Bucknall MP, Little D (1995b) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 38(3):324–331
Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Alamoudi M, Alwattar M, Ozand PT (1997) Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 43(7):1129–1141
Rashed MS, Rahbeeni Z, Ozand PT (1999a) Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry. Southeast Asian J Trop Med Public Health 30(Suppl 2):170–173
Rashed MS, Rahbeeni Z, Ozand PT (1999b) Application of electrospray tandem mass spectrometry to neonatal screening. Semin Perinatol 23(2):183–193
Rashed MS, Aboul-Enein HY, AlAmoudi M, Jakob M, Al-Ahaideb LY, Abbad A, Shabib S, Al-Jishi E (2002) Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of glyceric acid in urine of patients with d-glyceric and l-glyceric acidurias. Biomed Chromatogr 16(3):191–198
Rashed MS, Al-Ahaidib LY, Al-Dirbashi OY, Al Amoudi M, Al-Sayed MM, Rahbeeni Z, Al-Hassnan Z, Al-Dbaas A, Al-Owain M, Ni Luanaigh M (2005) Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia. Anal Biochem 339(2):310–317
Reisner SH, Seelenfreund M, Ben-Bassat M (1971) Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. Acta Paediatr Scand 60(3):357–360
Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I (2002) Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP. Eur J Hum Genet 10(7):439–447
Robinson LK, Jones KL, Culler F, Nyhan WL, Sakati N, Jones KL (1983) The Börjeson–Forssman–Lehmann syndrome. Am J Med Genet 15(3):457–468
Sackey K, Sakati N, Aur RJ, Shebib S, Sabbah RS, Rifai S (1985) Multiple dysmorphic features and pancytopenia: a new syndrome? Clin Genet 27(6):606–610
Sass JO, Jobard F, Topçu M, Mahfoud A, Werlé E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer J (2008) L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene. J Inherit Metab Dis (Epub ahead of print)
Saha N, Bayoumi RA, El Sheikh FS, Samuel AP, El Fadil I, El Houri IS, Sebai ZA, Sabaa HM (1980) Some blood genetic markers of selected tribes in Western Saudi Arabia. Am J Phys Anthropol 52(4):595–600
Saif GB, Al-Khenaizan S (2007) Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings. Int J Dermatol 46(3):290–294
Sakati NO, Nyhan WL, Shear CS, Kattan H, Akhtar M, Bay C, Jones KL, Schackner L (1983) Syndrome of cutis laxa, ligamentous laxity, and delayed development. Pediatrics 72:850–856
Salih MA, Mahdi AH, al-Rikabi AC, al-Bunyan M, Roberds SL, Anderson RD, Campbell KP (1996a) Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia. Dev Med Child Neurol 38(3):262–270
Salih MA, Sunada Y, Al-Nasser M, Ozo CO, Al-Turaiki MH, Akbar M, Campbell KP (1996b) Muscular dystrophy associated with beta-dystroglycan deficiency. Ann Neurol 40(6):925–928
Salih MA, Maisonobe T, Kabiraj M, al Rayess M, al-Turaiki MH, Akbar M, Tahan A, Urtizberea JA, Grid D, Hamadouche T, Guilbot A, Brice A, Leguern E (2000) Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity. Neuromuscul Disord 10(1):10–15
Salih MA, Abdel-Gader AG, Zahraa JN, Al-Rayess MM, Alorainy IA, Hassan HH, Ruitenbeek W, Zeviani M (2006) Stroke due to mitochondrial disorders in Saudi children. Saudi Med J 27(Suppl 1):S81–S90
Sanjad S, Sakati N, Abu-Osba Y (1988) Congenital hypoparathyroidism with dysmorphic features: a new syndrome. Pediatr Res 23:271A (abstract)
Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 66(2):193–196
Sanjad SA, Kaddoura RE, Nazer HM, Akhtar M, Sakati NA (1993) Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. Am J Dis Child 147(9):957–959
Schepers U, Glombitza G, Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K (1996) Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Am J Hum Genet 59(5):1048–1056
Seidahmed MZ, Alyamani EA, Rashed MS, Saadallah AA, Abdelbasit OB, Shaheed MM, Rasheed A, Hamid FA, Sabry MA (2005) Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. Am J Med Genet A 136(2):205–209
Seliem MA, Mansara KB, Palileo M, Ye X, Zhang Z, Benson DW (2000) Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia. Pediatr Res 48(6):770–775
Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH (2003) The GPR54 gene as a regulator of puberty. N Engl J Med 349(17):1614–1627
Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C (2006) Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 38(6):682–687
Shah SS, Al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH (2008) Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genet 29(1):41–45
Shebib S, Hugosson C, Sakati N, Nyhan WL (1991) Osteodysplastic variant of primordial dwarfism. Am J Med Genet 40(2):146–150
Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG (2002) Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology 59(12):1881–1888
Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA (2005) ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet 42(9):725–729
Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002) The demographics and distribution of type B Niemann–Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet 71(6):1413–1419
Singh B, Jamil A, al-Shahwan SA, Sharif H, al-Deeb SM, Biary N (1993) Choroido-cerebral calcification syndrome with retardation. Neurology 43(11):2387–2389
Siraj AK, Ibrahim M, Al-Rasheed M, Bu R, Bavi P, Jehan Z, Abubaker J, Murad W, Al-Dayel F, Ezzat A, El-Solh H, Uddin S, Al-Kuraya K (2007) Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East. Ann Hematol 86(12):887–895
Siraj AK, Ibrahim M, Al-Rasheed M, Abubaker J, Bu R, Siddiqui SU, Al-Dayel F, Al-Sanea O, Al-Nuaim A, Uddin S, Al-Kuraya K (2008a) Polymorphisms of selected xenobiotic genes contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population. BMC Med Genet 9:61
Siraj AK, Al-Rasheed M, Ibrahim M, Siddiqui K, Al-Dayel F, Al-Sanea O, Uddin S, Al-Kuraya K (2008b) RAD52 polymorphisms contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population. J Endocrinol Invest 31(10):893–899
Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26(1):71–75
Solh H, Da Cunha AM, Giri N, Padmos A, Spence D, Clink H, Ernst P, Sakati N (1995) Bone marrow transplantation for infantile malignant osteopetrosis. J Pediatr Hematol Oncol 17(4):350–355
Stangenberg M, Agarwal N, Rahman F, Sheth K, al Sedeiry S, De Vol E (1990) Frequency of HLA genes and islet cell antibodies (ICA) and result of postpartum oral glucose tolerance tests (OGTT) in Saudi Arabian women with abnormal OGTT during pregnancy. Diabetes Res 14(1):9–13
Stangenberg M, Lingman G, Roberts G, Ozand P (1992) Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy. Am J Med Genet 44(2):142–144
Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR (1998) A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet 103(3):328–333
Stuhrmann M, Bashawri L, Ahmed MA, Al-Awamy BH, Kühnau W, Schmidtke J, El-Harith EA (2001) Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family. Br J Haematol 112(3):616–620
Stuhrmann M, Bukhari IA, El-Harith el-HA (2004) Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene. Saudi Med J 25(10):1449–1452
Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith EH (2008) Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21–q23. Clin Genet 73(6):566–572
Suwairi WM, Bahabri SA, Laxer RM, Polinkovsky A, Warman ML (1997) Autosomal recessive camptodactyly–arthropathy–coxa vara–pericarditis syndrome: clinical features and genetic mapping to chromosome 1q25–31. Am J Hum Genet 61(Suppl):A48 (abstract)
Taha D, Barbar M, Kanaan H, Williamson Balfe J (2003) Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? Am J Med Genet 122A:269–273
Taha D, Boerkoel CF, Balfe JW, Khalifah M, Sloan EA, Barbar M, Haider A, Kanaan H (2004) Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. Am J Med Genet A 131(2):194–199
Taha D, Mullis PE, Ibáñez L, de Zegher F (2005) Absent or delayed adrenarche in Pit-1/POU1F1 deficiency. Horm Res 64(4):175–179
Taha D, Al-Harbi N, Al-Sabban E (2008) Hyperglycemia and hypoinsulinemia in patients with Fanconi–Bickel syndrome. J Pediatr Endocrinol Metab 21(6):581–586
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR (2002) Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 32(2):267–272
Tallab TM (1996) Richner–Hanhart syndrome: importance of early diagnosis and early intervention. J Am Acad Dermatol 35(5 Pt 2):857–859
Tanner SM, Li Z, Bisson R, Acar C, Oner C, Oner R, Cetin M, Abdelaal MA, Ismail EA, Lissens W, Krahe R, Broch H, Gräsbeck R, de la Chapelle A (2004) Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Hum Mutat 23(4):327–333
Thakker RV, Farmery MR, Sakati NA, Milner RD (1992) Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian family. Clin Endocrinol 37(4):338–343
Thein SL, Wallace RB, Pressley L, Clegg JB, Weatherall DJ, Higgs DR (1988) The polyadenylation site mutation in the alpha-globin gene cluster. Blood 71(2):313–319
Thomas PM, Cote GJ, Hallman DM, Mathew PM (1995a) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet 56(2):416–421
Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J (1995b) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268(5209):426–429
Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC (2005) Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 37(10):1035–1037
van Reeuwijk J, Grewal PK, Salih MA, de Bernabé Beltrán-Valero D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T (2007) Intragenic deletion in the LARGE gene causes Walker–Warburg syndrome. Hum Genet 121(6):685–690
Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 70(2):448–460
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL (2005) Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 37(7):692–700
Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I (2007) Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet 16(13):1619–1629
Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC (1998) Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet 63(2):517–525
Warsy AS, El-Hazmi MA, Sedrani SH, Kinhal M (1991) Alpha-1-antitrypsin phenotypes in Saudi Arabia: a study in the central province. Ann Saudi Med 11(2):159–162
Warsy AS, el-Hazmi MA (1999) Glutathione reductase deficiency in Saudi Arabia. East Mediterr Health J 5(6):1208–1212
Warsy AS, El-Hazmi MA (2001) G6PD deficiency, distribution and variants in Saudi Arabia: an overview. Ann Saudi Med 21(3–4):174–177
Wojcik J, Berg MA, Esposito N, Geffner ME, Sakati N, Reiter EO, Dower S, Francke U, Postel-Vinay MC, Finidori J (1998) Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. J Clin Endocrinol Metab 83(12):4481–4489
Woodhouse NJ, Sakati NA (1983) A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J Med Genet 20(3):216–219
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29(2):160–165
Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF (2005) Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 77(1):16–26
Zhang Y, Lundgren T, Renvert S, Tatakis DN, Firatli E, Uygur C, Hart PS, Gorry MC, Marks JJ, Hart TC (2001) Evidence of a founder effect for four cathepsin C gene mutations in Papillon–Lefèvre syndrome patients. J Med Genet 38(2):96–101
Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D (2008) Genotype–phenotype correlation in combined deficiency of factor V and factor VIII. Blood 111(12):5592–5600
URLs
The Saudi Central Department of Statistics & Information http://www.cdsi.gov.sa
The Saudi Ministry of Heath Health statistics book for the year of 2007. http://www.moh.gov.sa/statistics/stats2007/2007.html
Saudi Geographical Society http://www.saudigs.org
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Al-Hassnan, Z.N., Sakati, N. (2010). Genetic Disorders in Saudi Arabia. In: Teebi, A. (eds) Genetic Disorders Among Arab Populations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-05080-0_19
Download citation
DOI: https://doi.org/10.1007/978-3-642-05080-0_19
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-05079-4
Online ISBN: 978-3-642-05080-0
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)