Autosomal Recessive Axonal Form of CMT Caused by Compound Heterozygous 3'-Splice

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Neuropediatrics. 2005 Jun;36(3):206-9.

Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused

by Compound Heterozygous 3'-Splice Site and Ser130Cys Mutation in the

GDAP1 Gene.

Kabzinska D, Kochanski A, Drac H, Ryniewicz B, Rowinska-Marcinska K,

Hausmanowa-Petrusewicz I.

Neuromuscular Unit, Medical Research Centre, Polish Academy of

Sciences, Warsaw, Poland.

A recessive demyelinating subtype of Charcot-Marie-Tooth disease

called CMT4 is a heterogeneous group of disorders. A relatively

frequent form of recessive CMT (CMT4 A) has been mapped to the

chromosome 8 q21 and shown to be caused by mutations in the

ganglioside-induced differentiation protein 1 (GDAP1) gene. Twenty

mutations in the GDAP1 gene have been reported in patients suffering

from the axonal and demyelinating forms of CMT disease. In this study

we report two novel mutations in the GDAP1 gene in a patient

suffering from CMT2 disease and whose parents were asymptomatic

carriers of a Ser130Cys and 3'-splice site (311-1G > A) mutation,

respectively.