Lamin A/C gene mutation in type 2 research - from Algeria

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Research Abstract from Neuromuscul Disord 2003 Jan;13(1):60-7

The phenotypic manifestations of autosomal recessive axonal

Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud

A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Levy N, Grid

D.

Service de Neurologie, Centre Hospitalier Universitaire Ben-Aknoun,

Algiers, Algeria

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.