Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

作者：Taisuke Sato, Osamu Samura, Noriko Kato, Kosuke Taniguchi, Ken Takahashi, Yuki Ito, Hiroaki Aoki, Masahisa Kobayashi, Ohsuke Migita, Aikou Okamoto, Kenichiro Hata · 发表于：Human Genome Variation · 年份：2018 · DOI：10.1038/s41439-018-0004-z · 被引用次数：19 · 研究领域：Head and Neck Anomalies、Cerebral Venous Sinus Thrombosis、Oropharyngeal Anatomy and Pathologies

Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermal anomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene ( TFAP2A ). We performed detailed genetic analysis of a Japanese family with clinically suspected BOFS and identified a novel missense mutation resulting in a predicted amino-acid substitution in the highly conserved basic DNA-binding domain of TFAP2A (NM_003220.2:c.699A>C).