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

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.

• Authors: 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
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 3 Pg. 328-35 (Mar 2009) ISSN: 1552-4833 [Electronic] United States
• PMID: 19206178 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: 2009 Wiley-Liss, Inc.

Chemical References

• Spermine Synthase

Topics

• 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