Snyder-Robinson syndrome

Definition:

Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. This syndrome is caused by missense mutations in the spermine synthase gene.

References:

[1]. Anthony E Pegg, et al. Spermine synthase. Cell Mol Life Sci. 2010 Jan;67(1):113-21. [Content Brief]

[2]. H-Hilger Ropers, et al. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57. [Content Brief]

[3]. L E Becerra-Solano, et al. 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. [Content Brief]

[4]. Zhe Zhang, et al. Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat. 2010 Sep;31(9):1043-9. [Content Brief]

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