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A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome

✍ Scribed by Zhang, Z.; Norris, J.; Kalscheuer, V.; Wood, T.; Wang, L.; Schwartz, C.; Alexov, E.; Van Esch, H.

Book ID
121738264
Publisher
Oxford University Press
Year
2013
Tongue
English
Weight
615 KB
Volume
22
Category
Article
ISSN
0964-6906

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