Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy

• Published in: Neurogenetics Vol. 1; no. 4; pp. 273 - 276
• Main Authors: Wang, C H, Papendick, B D, Bruinsma, P, Day, J K
• Format: Journal Article
• Language: English
• Published: United States 01-08-1998
• Subjects: Amino Acid Substitution; Cyclic AMP Response Element-Binding Protein; DNA Mutational Analysis; Exons - genetics; Female; Humans; Male; Muscular Atrophy, Spinal - genetics; Mutation, Missense; Nerve Tissue Proteins - genetics; Nuclear Family; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; RNA-Binding Proteins; SMN Complex Proteins; Telomere - genetics
• ISSN: 1364-6745
• DOI: 10.1007/s100480050040

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.