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
Preview
Unable to display preview. Download preview PDF.
References
Badano JL, Inoue K, Katsanis N, Lupski JR (2001) New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem 47:838–843
Beckmann A, Schröder JM (2000) Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR. Acta Neuropathol (Berl) 100:459–463
Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P et al (2000) Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A. Eur J Hum Genet 8:229–235
Chance P, Alderson M, Leppig K, Lensch M, Matsunami N, Smith B et al (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143–151
Latour P, Boutrand L, Levy N, Bernard R, Boyer A, Claustrat F et al (2001) Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication. Clin Chem 47:829–837
Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M et al (1998) Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum Mol Genet 7:141–148
Lorentzos P, Kaiser T, Kennerson ML, Nicholson GA (2003) A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR. Genet Test 7:135–138
Lupski J, de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B et al (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219–232
Navon R, Timmerman V, Löfgren A, Liang P, Nelis E, Zeitune M et al (1995) Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. Prenat Diagn 15:633–640
Nelis E, Van Broeckhoven C, De JP, Löfgren A, Vandenberghe A, Latour P et al (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 4:25–33
Nelis E, Warner L, De Vriendt E, Chance P, Lupski J, Van Broeckhoven C (1996) Comparison of single-strand conformation polymorphism and heteroduplex analysis for the detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet 4:329–333
Neumann Y, Toren A, Rechavi G, Seifried B, Shoham NG, Mandel M et al (1996) Vincristine treatment triggering the expression of asymptomatic Charcot-Marie-Tooth disease. Med Pediatr Oncol 26:280–283
Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874–879
Pentao L, Wise C, Chinault A, Patel P, Lupski J (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292–300
Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F et al (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1:93–97
Rautenstrauss B, Fuchs C, Liehr T, Grehl H, Murakami T, Lupski J (1997) Visualization of the CMT1A Duplication and HNPP Deletion by FISH on Stretched Chromosome Fibers. JPNS 2:319–322
Reiter L, Murakami T, Koeuth T, Pentao L, Muzny D, Gibbs R et al (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288–297
Sambrook J, Fritsch EF, Maniatis T (2000) Molecular cloning: a laboratory manual, 3rd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci 74:5463–5467
Seeman P, Mazanec R, Zidar J, Hrusakova S, Ctvrteckova M, Rautenstrauss B (2000) Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. Int J Mol Med 6:421–426
Shaffer LG, Kennedy GM, Spikes AS, Lupski JR (1997) Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 69:325–331
Stronach EA, Clark C, Bell C, L6fgren A, McKay NG, Timmerman V et al (1999) Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 4:117–122
Tachi N, Kozuka N, Ohya K, Chiba S (1999) Charcot-Marie-Tooth disease type 1A duplication by PCR analysis. Pediatr Neurol 20:360–363
Takashima H, Boerkoel CF, Lupski JR (2001) Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med 3:335–342
Timmerman V, Löfgren A, Le Guern E, Liang P, De Jonghe P, Martin J et al (1996) Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). Hum Genet 97:26–34
Timmerman V, Rautenstrauss B, Reiter L, Koeuth T, Löfgren A, Liehr T et al (1997) Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet 34:43–49
Valentijn LJ, Baas F, Zorn I, Hensels GW, de Visser M, Bolhuis PA (1993) Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 2:2143–2146
Wilke K, Duman B, Horst J (2000) Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat 16:431–436
Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: A review. Hum Mutat 17:439–474
Young P, Stögbauer F, Wiebusch H, Löfgren A, Timmerman V, Van Broeckhoven C et al (1998) PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A. Neurology 50:760–763
Rights and permissions
Copyright information
© 2005 Steinkopff Verlag Darmstadt
About this chapter
Cite this chapter
KuhlenbÄumer, G. (2005). Molecular genetic diagnosis of hereditary neuropathies. In: Hereditary Peripheral Neuropathies. Steinkopff. https://doi.org/10.1007/3-7985-1586-7_11
Download citation
DOI: https://doi.org/10.1007/3-7985-1586-7_11
Publisher Name: Steinkopff
Print ISBN: 978-3-7985-1453-9
Online ISBN: 978-3-7985-1586-4
eBook Packages: MedicineMedicine (R0)