A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome

L. E. Becerra-Solano, J. Butler, G. Castañeda-Cisneros, D. E. McCloskey, X. Wang, A. E. Pegg, C. E. Schwartz, J. Sánchez-Corona, J. E. García-Ortiz

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34 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)328-335
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number3
DOIs
StatePublished - Mar 2009

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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