title: Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.
abstract: Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron (SMN(T)) gene. Over 90% of SMA patients harbor a deletion of SMN(T), but relatively few base-pair mutations have been reported. We report here a novel G279C mutation with a G to T transversion on exon 7 (nucleotide position 868) of SMN(T). Another missense mutation has been reported recently on position 869. The fact that two mutations on the same codon both result in SMA suggest a functional significance of this amino acid within the SMN protein.
authors.affiliation: Department of Psychiatry, University of Missouri, Columbia 65212, USA.
authors.forename: C H
authors.initials: CH
authors.lastname: Wang
authors.forename: B D
authors.initials: BD
authors.lastname: Papendick
authors.forename: P
authors.initials: P
authors.lastname: Bruinsma
authors.forename: J K
authors.initials: JK
authors.lastname: Day
mesh_terms: D019943:Amino Acid Substitution; D017362:Cyclic AMP Response Element-Binding Protein; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009679:Nuclear Family; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D016615:Telomere / Q000235:genetics*
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins