title: Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
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.
authors.affiliation: Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Anthony
authors.initials: A
authors.lastname: Antonellis
authors.forename: Rachel E
authors.initials: RE
authors.lastname: Ellsworth
authors.forename: Nyamkhishig
authors.initials: N
authors.lastname: Sambuughin
authors.forename: Imke
authors.initials: I
authors.lastname: Puls
authors.forename: Annette
authors.initials: A
authors.lastname: Abel
authors.forename: Shih-Queen
authors.initials: SQ
authors.lastname: Lee-Lin
authors.forename: Albena
authors.initials: A
authors.lastname: Jordanova
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremensky
authors.forename: Kyproula
authors.initials: K
authors.lastname: Christodoulou
authors.forename: Lefkos T
authors.initials: LT
authors.lastname: Middleton
authors.forename: Kumaraswamy
authors.initials: K
authors.lastname: Sivakumar
authors.forename: Victor
authors.initials: V
authors.lastname: Ionasescu
authors.forename: Benoit
authors.initials: B
authors.lastname: Funalot
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Vance
authors.forename: Lev G
authors.initials: LG
authors.lastname: Goldfarb
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Fischbeck
authors.forename: Eric D
authors.initials: ED
authors.lastname: Green
mesh_terms: D000595:Amino Acid Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006032:Glycine-tRNA Ligase / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D020161:Physical Chromosome Mapping; D017386:Sequence Homology, Amino Acid
chemical_list: D006032:Glycine-tRNA Ligase