Abstract
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Substitution
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Cauda Equina / metabolism
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Charcot-Marie-Tooth Disease / classification
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Charcot-Marie-Tooth Disease / epidemiology
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Charcot-Marie-Tooth Disease / genetics*
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Chromosomes, Human, Pair 8 / genetics*
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Codon, Nonsense
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DNA Mutational Analysis
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Genes, Recessive
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Haplotypes / genetics
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Humans
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Mutation, Missense
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Nerve Tissue Proteins / deficiency
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Nerve Tissue Proteins / genetics*
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Nerve Tissue Proteins / physiology
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Tunisia / epidemiology
Substances
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Codon, Nonsense
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GDAP protein
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Nerve Tissue Proteins