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

Neurogenetics. 1998 Aug;1(4):273-6. doi: 10.1007/s100480050040.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 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*

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins