Document Detail


Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
MedLine Citation:
PMID:  18006960     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a novel mutation, and to the best of the authors' knowledge, this is the first report of a clinically and genetically confirmed case of Smith-Lemli-Opitz syndrome in Korea.
Authors:
Jong Hee Chae; Ki Joong Kim; Yong Seung Hwang; Chang-Seok Ki; Jong-Won Kim
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of child neurology     Volume:  22     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-11-16     Completed Date:  2008-02-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  1297-300     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
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MeSH Terms
Descriptor/Qualifier:
Arginine / genetics
DNA Mutational Analysis
Female
Humans
Infant
Korea
Lysine / genetics
Mutation*
Oxidoreductases Acting on CH-CH Group Donors / genetics*
Smith-Lemli-Opitz Syndrome / genetics*,  pathology
Chemical
Reg. No./Substance:
56-87-1/Lysine; 74-79-3/Arginine; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC 1.3.1.21/7-dehydrocholesterol reductase

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


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