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

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 sus...

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Autores principales: Sato, Taisuke, Samura, Osamu, Kato, Noriko, Taniguchi, Kosuke, Takahashi, Ken, Ito, Yuki, Aoki, Hiroaki, Kobayashi, Masahisa, Migita, Ohsuke, Okamoto, Aikou, Hata, Kenichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945586/
https://www.ncbi.nlm.nih.gov/pubmed/29760939
http://dx.doi.org/10.1038/s41439-018-0004-z
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author Sato, Taisuke
Samura, Osamu
Kato, Noriko
Taniguchi, Kosuke
Takahashi, Ken
Ito, Yuki
Aoki, Hiroaki
Kobayashi, Masahisa
Migita, Ohsuke
Okamoto, Aikou
Hata, Kenichiro
author_facet Sato, Taisuke
Samura, Osamu
Kato, Noriko
Taniguchi, Kosuke
Takahashi, Ken
Ito, Yuki
Aoki, Hiroaki
Kobayashi, Masahisa
Migita, Ohsuke
Okamoto, Aikou
Hata, Kenichiro
author_sort Sato, Taisuke
collection PubMed
description 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).
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spelling pubmed-59455862018-05-14 Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome Sato, Taisuke Samura, Osamu Kato, Noriko Taniguchi, Kosuke Takahashi, Ken Ito, Yuki Aoki, Hiroaki Kobayashi, Masahisa Migita, Ohsuke Okamoto, Aikou Hata, Kenichiro Hum Genome Var Data Report 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). Nature Publishing Group UK 2018-05-10 /pmc/articles/PMC5945586/ /pubmed/29760939 http://dx.doi.org/10.1038/s41439-018-0004-z Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/.
spellingShingle Data Report
Sato, Taisuke
Samura, Osamu
Kato, Noriko
Taniguchi, Kosuke
Takahashi, Ken
Ito, Yuki
Aoki, Hiroaki
Kobayashi, Masahisa
Migita, Ohsuke
Okamoto, Aikou
Hata, Kenichiro
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
title Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
title_full Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
title_fullStr Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
title_full_unstemmed Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
title_short Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
title_sort novel tfap2a mutation in a japanese family with branchio-oculo-facial syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945586/
https://www.ncbi.nlm.nih.gov/pubmed/29760939
http://dx.doi.org/10.1038/s41439-018-0004-z
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