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

Abstract

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.

• Authors: Eva Nelis, Sevim Erdem, Ersin Tan, Ann Löfgren, Chantal Ceuterick, Peter De Jonghe, Christine Van Broeckhoven, Vincent Timmerman, Haluk Topaloglu
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 12 Issue 9 Pg. 869-73 (Nov 2002) ISSN: 0960-8966 [Print] England
• PMID: 12398840 (Publication Type: Case Reports, Clinical Trial, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• MTMR2 protein, human
• Protein Tyrosine Phosphatases
• Protein Tyrosine Phosphatases, Non-Receptor

Topics

• Adolescent
• Base Sequence
• Charcot-Marie-Tooth Disease (genetics, pathology)
• Child
• Chromatography, High Pressure Liquid
• Chromosome Mapping
• Chromosomes, Human, Pair 11
• Exons
• Female
• Genes, Recessive
• Homozygote
• Humans
• Male
• Mutation, Missense
• Myelin Sheath (genetics, pathology)
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Protein Tyrosine Phosphatases (genetics)
• Protein Tyrosine Phosphatases, Non-Receptor
• Sequence Analysis, DNA
• Turkey