The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
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DOI：
10.1016/s0960-8966(02)00196-7
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发表时间：
2003-01-01
影响因子：
2.8
通讯作者：
Grid, D
中科院分区：
文献类型：
--
作者：
Chaouch, M;Allal, Y;Grid, D
腓骨肌萎缩症是一组遗传性运动和感觉周围神经病变的遗传异质性疾病。腓骨肌萎缩症的轴突类型被指定为2型。到目前为止，已报道了6个常染色体显性和3个隐性Charcot-Marie-Tooth 2型位点。在这项研究中，我们报告了常染色体隐性轴突型腓骨肌萎缩症2型的表型，由于最近描述的突变（c.892C> T-p. R298C）在核纤层蛋白A/C核膜蛋白编码基因和第一个基因，其中突变导致常染色体隐性腓骨肌萎缩症2型。我们研究了来自四个阿尔及利亚家庭的八名患者。发病通常是在第二个十年，过程是迅速的，涉及上肢和近端肌肉，导致在不到4年的严重条件。核纤层蛋白A/C中的许多不同突变已被鉴定为引起可变表型，如肢带型肌营养不良1B型、常染色体显性和隐性Emery-Dreyfuss肌营养不良、扩张型心肌病伴房室传导缺陷、和Dunnigan型家族性部分脂肪营养不良应促使我们充分研究常染色体隐性Charcot-Marie-牙齿类型2携带LMNA突变。(C)2002 Elsevier Science B.V.版权所有。reserved.
Charcot-Marie-Tooth disease constitutes a genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. The axonal type of Charcot-Marie-Tooth is designated type 2. Six loci for autosomal dominant and three for recessive Charcot-Marie-Tooth type 2 have been reported so far. In this study we report the phenotype of autosomal recessive axonal Charcot-Marie-Tooth type 2 due to a recently-described mutation (c.892C > T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2. We have explored eight patients from four Algerian families. The onset is usually in the second decade and the course is rapid, involving upper limbs and proximal muscles, leading to a severe condition in less than 4 years. Many different mutations in Lamin A/C have been identified as causing variable phenotypes, such as limb girdle muscular dystrophy type 1B, autosomal dominant and recessive Emery-Dreyfuss muscular dystrophy, dilated cardiomyopathy with atrioventricular conduction defect, and Dunnigan-type familial partial lipodystrophy should prompt us to fully investigate the skeletal and cardiac muscles in patients affected with autosomal recessive Charcot-Marie-Tooth type 2 carrying a mutation in LMNA. (C) 2002 Elsevier Science B.V. All rights. reserved.