A Missense Mutation, p.V132G, in the X-linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome

Am J Med Genet A. 2009 Mar;149A(3):328-35. doi: 10.1002/ajmg.a.32641.

Abstract

Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of intron 4 of the spermine synthase gene, which caused truncation of the SMS protein and loss of enzyme activity, was identified in the original family. Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, X*
  • DNA Mutational Analysis
  • Exons
  • Genes, X-Linked*
  • Genetic Linkage
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Marfan Syndrome / genetics
  • Mental Retardation, X-Linked / genetics*
  • Mutation, Missense*
  • Osteoporosis / genetics
  • Pedigree
  • Scoliosis / genetics
  • Siblings
  • Spermine Synthase / genetics*
  • Young Adult

Substances

  • Spermine Synthase