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. 2008 Aug;45(8):539-43.
doi: 10.1136/jmg.2007.056713. Epub 2008 Jun 11.

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome

G de Alencastro, D E McCloskey, S E Kliemann, C M C Maranduba, A E Pegg, X Wang, D R Bertola, C E Schwartz, M R Passos-Bueno, A L Sertié

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome

G de Alencastro et al. J Med Genet. 2008 Aug.

Abstract

We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome (OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.

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