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Genet Test. 2008 Sep;12(3):457-9. doi: 10.1089/gte.2008.0015.

Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.

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1
Division of Clinical Developmental Sciences, St. George's University of London, London, United Kingdom. mkhetyar@sgul.ac.uk

Abstract

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.

PMID:
18752453
DOI:
10.1089/gte.2008.0015
[Indexed for MEDLINE]
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