Document Detail


Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome.
MedLine Citation:
PMID:  11493318     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The X-linked dominant Conradi-Hünermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3beta-hydroxysteroid-Delta8-Delta7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C-->G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.
Authors:
K Becker; M Csikós; A Horváth; S Kárpáti
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Experimental dermatology     Volume:  10     ISSN:  0906-6705     ISO Abbreviation:  Exp. Dermatol.     Publication Date:  2001 Aug 
Date Detail:
Created Date:  2001-08-08     Completed Date:  2001-10-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9301549     Medline TA:  Exp Dermatol     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  286-9     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Semmelweis University, H-1085 Budapest, Mária u. 41, Hungary. becker@bor.sote.hu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Amino Acid Substitution
Base Sequence / genetics
Chondrodysplasia Punctata / genetics*
Electrophoresis, Polyacrylamide Gel
Female
Heteroduplex Analysis
Heterozygote
Humans
Mutation, Missense / genetics*
Pedigree
Polymerase Chain Reaction
Reference Values
Steroid Isomerases / genetics*
Chemical
Reg. No./Substance:
EC 5.3.3.-/Steroid Isomerases; EC 5.3.3.-/delta(8)-delta(7)-sterol isomerase

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


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