Novel TFAP2B Mutation in Nonsyndromic Patent Ductus Arteriosus

摘要

Mutations in the gene encoding the TFAP2B transcription factor can cause Char syndrome with cardiac, cra-niofacial, 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.