Abstract
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V. This is the first example of an aminoacyl tRNA synthetase being implicated in a human genetic disease, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Charcot-Marie-Tooth Disease / classification
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Charcot-Marie-Tooth Disease / genetics*
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Chromosomes, Human, Pair 7 / genetics
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DNA Mutational Analysis
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Female
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Genes, Dominant
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Glycine-tRNA Ligase / genetics*
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Humans
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Male
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Molecular Sequence Data
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Muscular Atrophy, Spinal / classification
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Muscular Atrophy, Spinal / genetics*
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Mutation, Missense*
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Pedigree
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Physical Chromosome Mapping
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Sequence Homology, Amino Acid
Associated data
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GENBANK/AC091658
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GENBANK/AC091711
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GENBANK/AC091720
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GENBANK/AC091755
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GENBANK/AC092009
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GENBANK/AC092081
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GENBANK/AC092083
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GENBANK/AC092088
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GENBANK/AC098806
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GENBANK/AC099322
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GENBANK/BE669219
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GENBANK/BE680980
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GENBANK/BI818038
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GENBANK/BJ031186
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GENBANK/BM538632
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GENBANK/BQ730838
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GENBANK/Q04451