Document Detail


Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.
MedLine Citation:
PMID:  18752453     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mutations in the gene encoding the TFAP2B transcription factor can cause Char syndrome with cardiac, craniofacial, and hand abnormalities. However, TFAP2B mutations result in great phenotypic variability, which is believed to reflect different expression patterns of tissue-specific TFAP2 coactivators. We investigated a consanguineous family with isolated patent ductus arteriosus (PDA) for mutations in TFAP2B. Our study suggests that a novel splicing mutation in TFAP2B can cause isolated PDA without other clinical features.
Authors:
Maher Khetyar; Petros Syrris; Lorna Tinworth; Lulu Abushaban; Nicholas Carter
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic testing     Volume:  12     ISSN:  1090-6576     ISO Abbreviation:  Genet. Test.     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-08-28     Completed Date:  2008-12-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9802546     Medline TA:  Genet Test     Country:  United States    
Other Details:
Languages:  eng     Pagination:  457-9     Citation Subset:  IM    
Affiliation:
Division of Clinical Developmental Sciences, St. George's University of London, London, United Kingdom. mkhetyar@sgul.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Consanguinity
DNA Mutational Analysis
Ductus Arteriosus, Patent / genetics*
Exons
Female
Genotype
Humans
Male
Mutation*
Nucleic Acid Amplification Techniques
Pedigree
Polymerase Chain Reaction
Transcription Factor AP-2 / genetics*
Chemical
Reg. No./Substance:
0/TFAP2B protein, human; 0/Transcription Factor AP-2

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


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