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

Taisuke Sato; Osamu Samura; Noriko Kato; Kosuke Taniguchi; Ken Takahashi; Yuki Ito; Hiroaki Aoki; Masahisa Kobayashi; Ohsuke Migita; Aikou Okamoto; Kenichiro Hata

doi:10.1038/s41439-018-0004-z

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

Hum Genome Var. 2018 May 10:5:5. doi: 10.1038/s41439-018-0004-z. eCollection 2018.

Authors

Taisuke Sato^{1

2}, Osamu Samura¹, Noriko Kato², Kosuke Taniguchi², Ken Takahashi^{1

2}, Yuki Ito^{1

2}, Hiroaki Aoki¹, Masahisa Kobayashi³, Ohsuke Migita², Aikou Okamoto¹, Kenichiro Hata²

Affiliations

¹ 1Department of Obstetrics and Gynecology, The Jikei University School of Medicine, 3-25-8, Nishi-Shinbashi, Minato-ku, Tokyo, 105-8461 Japan.
² 2Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535 Japan.
³ 3Department of Pediatrics, The Jikei University School of Medicine, 3-25-8, Nishi-Shinbashi, Minato-ku, Tokyo, 105-8461 Japan.

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_003220.2:c.699A>C).

Publication types

Case Reports