Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

被引：40

作者：

Colomer, Jaume

Gooding, Rebecca

Angelicheva, Dora

King, Rosalind H. M.

Guillen-Navarro, Encarna

Parman, Yesim

Nascimento, Andres

Conill, Joan

Kalaydjieva, Luba

机构：

[1] Hosp San Juan Dios, Serv Neurol, Barcelona, Spain

[2] Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia

[3] Univ Western Australia, Western Australia Inst Med Res, Genet Mol Lab, Perth, WA 6009, Australia

[4] UCL, Dept Neurol, London, England

[5] Hosp Univ Virgen Arrixaca, Serv Pediat, Unidad Genet Med, Murcia, Spain

[6] Istanbul Fac Med, Dept Neurol, Istanbul, Turkey

来源：

NEUROMUSCULAR DISORDERS | 2006年 / 16卷 / 07期

基金：

英国惠康基金;

关键词：

CMT4C; founder mutation; genotype-phenotype correlations;

D O I：

10.1016/j.nmd.2006.05.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria. Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2. (C) 2006 Elsevier B.V. All rights reserved.

引用

页码：449 / 453

页数：5

共 8 条

[1] Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33 [J].