| A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. | |
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MedLine Citation:
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PMID: 19206178 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of intron 4 of the spermine synthase gene, which caused truncation of the SMS protein and loss of enzyme activity, was identified in the original family. Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome. |
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Authors:
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L E Becerra-Solano; J Butler; G Castañeda-Cisneros; D E McCloskey; X Wang; A E Pegg; C E Schwartz; J Sánchez-Corona; J E García-Ortiz |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-03-03 Completed Date: 2009-04-16 Revised Date: 2010-09-22 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 328-35 Citation Subset: IM |
Copyright Information:
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2009 Wiley-Liss, Inc. |
Affiliation:
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División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Mexico. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosomes, Human, X* DNA Mutational Analysis Exons Genes, X-Linked* Humans Linkage (Genetics) Male Marfan Syndrome / genetics Mental Retardation / genetics Mental Retardation, X-Linked / genetics* Mutation, Missense* Osteoporosis / genetics Pedigree Scoliosis / genetics Siblings Spermine Synthase / genetics* Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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HD26202/HD/NICHD NIH HHS; R01 HD026202-15/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 2.5.1.22/Spermine Synthase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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