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. Issue 8 (11th June 2008)

• Record Type: Journal Article
• Authors: de Alencastro, G; McCloskey, D E; Kliemann, S E; Maranduba, C M C; Pegg, A E; Wang, X; Bertola, D R; Schwartz, C E; Passos-Bueno, M R; Sertié, A L
• Is Part Of: Journal of medical genetics. Volume 45:Issue 8(2008)
• Page Start: 539
• Page End: 543
• Publication Date: 2008-06-11
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2007.056713
• Languages: English
• ISSNs: 1468-6244

Abstract

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.