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

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. © 2009 Wiley‐Liss, Inc.

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