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

Authors :: Sato T
Samura O
Kato N
Taniguchi K
Takahashi K
Ito Y
Aoki H
Kobayashi M
Migita O
Okamoto A
Hata K
Source :: Human genome variation [Hum Genome Var] 2018 May 10; Vol. 5, pp. 5. Date of Electronic Publication: 2018 May 10 (Print Publication: 2018).
Publication Year :: 2018
Abstract: 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&#95;003220.2:c.699A>C).<br />Competing Interests: The authors declare that they have no conflict of interest.