Document Detail

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.
MedLine Citation:
PMID:  18550699     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2008-06-11
Journal Detail:
Title:  Journal of medical genetics     Volume:  45     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-08-04     Completed Date:  2008-09-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  539-43     Citation Subset:  IM    
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MeSH Terms
DNA Mutational Analysis
Genes, Recessive
Mental Retardation, X-Linked / genetics*
Mutation, Missense*
Spermine Synthase / genetics*
Grant Support
Reg. No./Substance:
EC Synthase

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