Recessive Mutation Research from Belgium

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1: Neuromuscul Disord 2002 Nov;12(9):869-73

A novel homozygous missense mutation in the myotubularin-related protein

2 gene associated with recessive Charcot-Marie-Tooth disease with

irregularly folded myelin sheaths.

Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van

Broeckhoven C, Timmerman V, Topaloglu H.

Department of Molecular Genetics, Flanders Interuniversity Institute of

Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp

(UIA), Antwerp, Belgium

Mutations in the myotubularin-related protein 2 gene on chromosome 11q22

are known to cause autosomal recessive Charcot-Marie-Tooth disease with

irregularly folded myelin sheaths. We screened the coding region of the

myotubularin-related protein 2 gene in a Turkish consanguineous

Charcot-Marie-Tooth disease family compatible with linkage to chromosome

11q22. A homozygous cytosine to thymine missense mutation at nucleotide

position 847, resulting in an amino acid substitution of arginine to

tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene. This

is the second homozygous missense mutation associated with recessive

Charcot-Marie-Tooth disease with focally folded myelin sheaths.