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    
Abstract/OtherAbstract:
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
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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
Descriptor/Qualifier:
Adult
Child
DNA Mutational Analysis
Female
Genes, Recessive
Humans
Male
Mental Retardation, X-Linked / genetics*
Mutation, Missense*
Pedigree
Spermine Synthase / genetics*
Syndrome
Grant Support
ID/Acronym/Agency:
GM-26290/GM/NIGMS NIH HHS; HD26202/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
EC 2.5.1.22/Spermine Synthase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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