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.
L E Becerra-Solano  1 ,  J Butler ,  G Castañeda-Cisneros ,  D E McCloskey ,  X Wang ,  A E Pegg ,  C E Schwartz ,  J Sánchez-Corona ,  J E García-Ortiz
Affiliations
  • 1. División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Mexico.
PMID: 19206178 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.