Molecular Biology Reports

, Volume 46, Issue 1, pp 287–299 | Cite as

Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience

  • M. ElmasEmail author
  • H. Yıldız
  • M. Erdoğan
  • B. Gogus
  • K. Avcı
  • M. Solak
Original Article


Whole-exome sequencing (WES) is an ideal method for the diagnosis of autosomal recessive diseases. The aim of this study was to evaluate the diagnostic power of WES in patients with autosomal recessive inheritance and to determine the relationship between genotype and phenotype. Retrospective screenings of 24 patients analysed with WES were performed and clinical and genetic data were evaluated. Any pathogenic mutation that could explain the suspected disease in 4 patients was not identified. A homozygous pathogenic mutation was detected in 18 patients. 2 patients had heterozygous mutations. According to this study results, WES is a successful technique to be used at the stage of diagnosis in patients who are accompanied by various degrees of intellectual disability matching the inheritance of the autosomal recessive.


Intellectual disability Whole exome sequencing Consanguinity Microcephaly 


  1. 1.
    ACMG Policy Statement (2012) Points to consider in the clinical application of genomic sequencing. Genet Med 14(8):759–761CrossRefGoogle Scholar
  2. 2.
    Alazami AM et al (2012) Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat 33(10):1429–1434CrossRefGoogle Scholar
  3. 3.
    Angius A et al (2018) Erratum: Bi-allelic mutations in KLHL7 cause a crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. [Am J Hum Genet (2016) 99(1):(236–245) (S0002929716301616) (]. Am J Hum Genet 102(4):713Google Scholar
  4. 4.
    Azmanov DN et al (2013) Challenges of diagnostic exome sequencing in an inbred founder population. Mol Genet Genom Med 1(2):71–76CrossRefGoogle Scholar
  5. 5.
    Finster M, Wood M (2005) The Apgar score has survived the test of time. Anesthesiology 102(4):855–857CrossRefGoogle Scholar
  6. 6.
    Gilissen C, Hoischen A, Brunner HG, Veltman JA (2012) Disease gene identification strategies for exome sequencing. Eur J Hum Genet 20(5):490–497. CrossRefGoogle Scholar
  7. 7.
    Tassé MJ, Grover MD (2013) American association on intellectual and developmental disabilities. In: Volkmar FR (ed) Encyclopedia of autism spectrum disorders. Springer, New York, pp 122–125CrossRefGoogle Scholar
  8. 8.
    Harripaul R et al (2017) Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry 23(4):973CrossRefGoogle Scholar
  9. 9.
    Harripaul R, Noor A, Ayub M, Vincent JB (2017) The use of next-generation sequencing for research and diagnostics for intellectual disability. Cold Spring Harb Perspect Med 7(3):a026864CrossRefGoogle Scholar
  10. 10.
    Khan E, Khan J, Rafi M, Khan F (2017) Consanguinity and autosomal recessive mental retardation in South Waziristan Agency. J Health Sci 7(3):44–49Google Scholar
  11. 11.
    MacLennan AH, Thompson SC, Gecz J (2015) Cerebral palsy: causes, pathways, and the role of genetic variants. Am J Obstet Gynecol 213(6):779–788CrossRefGoogle Scholar
  12. 12.
    Mccandless SE, Brunger JW, Cassidy SB (2004) The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet 74:121–127CrossRefGoogle Scholar
  13. 13.
    Nelson KB, Dambrosia JM, Ting TY, Grether JK (1996) Uncertain value of electronic fetal monitoring in predicting cerebral palsy. N Engl J Med 334(10):613–619CrossRefGoogle Scholar
  14. 14.
    Oechsli FW et al (1989) Prenatal and perinatal factors in the etiology of cerebral palsy. J Pediatr 116(4):615–619Google Scholar
  15. 15.
    Pharoah POD (2007) Prevalence and pathogenesis of congenital anomalies in cerebral palsy. Arch Dis Child Fetal Neonatal Ed 92(6):F489–F493CrossRefGoogle Scholar
  16. 16.
    Picciolini O et al (2006) Usefulness of an early neurofunctional assessment in predicting neurodevelopmental outcome in very low birthweight infants. Arch Dis Child Fetal Neonatal Ed 91(2):111–118CrossRefGoogle Scholar
  17. 17.
    Reddihough D, Collins K (2003) Epidemiology and causes of cerebral palsy. Aust J Physiother 49:7–12CrossRefGoogle Scholar
  18. 18.
    Rymen D et al (2012) COG5-CDG: expanding the clinical spectrum. Orphanet J Rare Dis 7(1):1–10CrossRefGoogle Scholar
  19. 19.
    Rymen D et al (2015) Key features and clinical variability of COG6-CDG. Mol Genet Metab 116(3):163–170. CrossRefGoogle Scholar
  20. 20.
    Samaranch L et al (2008) SPG11 compound mutations in spastic paraparesis with thin corpus callosum. Neurology 71(5):332–336CrossRefGoogle Scholar
  21. 21.
    Shashi V et al (2014) The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 16(2):176–182CrossRefGoogle Scholar
  22. 22.
    Thorngren-Jerneck K, Herbst A (2001) Low 5-minute Apgar score: a population-based register study of 1 million term births. Obstet Gynecol 98(1):65–70Google Scholar
  23. 23.
    TÜİK. 207AD (2017) Türkiye İstatistik Kurumu, İstatistiklerle Yaşlılar. TÜİK.
  24. 24.
    Verma A, Srivastava P, Kumar P (2016) Stress among parents having children with mental retardation: a gender perspective. J Disabil Manag Rehabil 2(1979):68–72Google Scholar
  25. 25.
    Vissers LELM, Gilissen C, Veltman JA (2015) Genetic studies in intellectual disability and related disorders. Nat Rev Genet 17(1):9–18. CrossRefGoogle Scholar
  26. 26.
    Witters I, Moerman P, Fryns J-P (2002) Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. Am J Med Genet 113(1):23–28CrossRefGoogle Scholar

Copyright information

© Springer Nature B.V. 2018

Authors and Affiliations

  1. 1.Medical Genetics DepartmentAfyon Kocatepe UniversityAfyonkarahisarTurkey
  2. 2.Medical Biology and Genetics DepartmentAfyon Kocatepe UniversityAfyonkarahisarTurkey

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