A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

被引：78

作者：

Georgiou, DM

Zidar, J

Korosec, M

Middleton, LT

Kyriakides, T

Christodoulou, K ^{[1
]}

机构：

[1] Cyprus Inst Neurol & Genet, Nicosia, Cyprus

[2] Univ Ljubljana, Med Ctr, Inst Clin Neurophysiol, Ljubljana 61000, Slovenia

[3] GlaxoSmithKline, Clin Discovery Genet, London, England

[4] Cyprus Inst Neurol & Genet, Mol Genet Dept D, CY-1683 Nicosia, Cyprus

来源：

NEUROGENETICS | 2002年 / 4卷 / 02期

关键词：

Charcot-Marie-Tooth; CMT2; novel neurofilament-light mutation;

D O I：

10.1007/s10048-002-0138-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7pl4), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11q2l). Two loci have thus far been identified for autosomal recessive CMT2; ARCM7-2A (lq21.1-q21.3) and ARCMT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, and kinesin) have been associated with the CMT2 phenotype. We identified a novel neurofilament-light missense mutation (C647) that causes the disease in a large Slovenian CMT2 family. This novel mutation shows complete co-segregation with the dominantly inherited CMT2 phenotype in our family.

引用

页码：93 / 96

页数：4

共 25 条

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