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.

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.

• Authors: 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
• Journal: Journal of medical genetics (J Med Genet) Vol. 45 Issue 8 Pg. 539-43 (Aug 2008) ISSN: 1468-6244 [Electronic] England
• PMID: 18550699 (Publication Type: Letter, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Spermine Synthase

Topics

• Adult
• Child
• DNA Mutational Analysis
• Female
• Genes, Recessive
• Humans
• Male
• Mental Retardation, X-Linked (genetics)
• Mutation, Missense
• Pedigree
• Spermine Synthase (genetics)
• Syndrome