| 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 |
Related Documents
:
|
19322539 - Hereditary tumor syndromes and gliomas. 9435989 - Genetic defects of the udp-glucuronosyltransferase-1 (ugt1) gene that cause familial no... 19339789 - Genetics of hypertensive syndrome. 14518069 - Constipation, polyps, or cancer? let pten predict your future. 19147279 - Chemopreventive efficacy of rapamycin on peutz-jeghers syndrome in a mouse model. 20635399 - Discordant phenotype and sterol biochemistry in smith-lemli-opitz syndrome. 22116359 - Identification of allelic variants of pendrin (slc26a4) with loss and gain of function. 4064369 - Umbilical dysmorphology. the importance of contemplating the belly button. 11038439 - Ablepharon-macrostomia syndrome: first report of familial occurrence. |
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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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
Previous Document: Clinical and molecular aspects of RAS related disorders.
Next Document: The effect of rapamycin on DNA synthesis in multiple tissues from late gestation fetal and postnatal...