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A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths

2002; Elsevier BV; Volume: 12; Issue: 9 Linguagem: Inglês

10.1016/s0960-8966(02)00046-9

1873-2364

Eva Nelis, Sevim Erdem‐Özdamar, Eng M. Tan, Ann Löfgren, C. Ceuterick, Peter DeJonghe, Christine Van Broeckhoven, Vincent Timmerman, Haluk Topaloğlu,

Signaling Pathways in Disease

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.