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.
Publication types
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Case Reports
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Clinical Trial
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Base Sequence
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Charcot-Marie-Tooth Disease / genetics*
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Charcot-Marie-Tooth Disease / pathology
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Child
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Chromatography, High Pressure Liquid
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Chromosome Mapping
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Chromosomes, Human, Pair 11
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Exons
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Female
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Genes, Recessive
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Homozygote
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Humans
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Male
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Mutation, Missense*
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Myelin Sheath / genetics
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Myelin Sheath / pathology*
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Pedigree
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Polymerase Chain Reaction
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Polymorphism, Genetic
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Protein Tyrosine Phosphatases / genetics*
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Protein Tyrosine Phosphatases, Non-Receptor
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Sequence Analysis, DNA
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Turkey
Substances
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MTMR2 protein, human
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Protein Tyrosine Phosphatases
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Protein Tyrosine Phosphatases, Non-Receptor