GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development

We identified a heterozygous p.(R284H) variant of GATA4 in a Japanese family with atrial septal defect, including boys with apparently normal male sex development. The findings, together with the previous data, imply that GATA4 variants primarily cause congenital heart disease and rarely result in 4...

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Autores principales: Shimizu, Daisuke, Iwashima, Satoru, Sato, Keisuke, Hayano, Satoshi, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230668/
https://www.ncbi.nlm.nih.gov/pubmed/30455927
http://dx.doi.org/10.1002/ccr3.1851
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author Shimizu, Daisuke
Iwashima, Satoru
Sato, Keisuke
Hayano, Satoshi
Fukami, Maki
Saitsu, Hirotomo
Ogata, Tsutomu
author_facet Shimizu, Daisuke
Iwashima, Satoru
Sato, Keisuke
Hayano, Satoshi
Fukami, Maki
Saitsu, Hirotomo
Ogata, Tsutomu
author_sort Shimizu, Daisuke
collection PubMed
description We identified a heterozygous p.(R284H) variant of GATA4 in a Japanese family with atrial septal defect, including boys with apparently normal male sex development. The findings, together with the previous data, imply that GATA4 variants primarily cause congenital heart disease and rarely result in 46,XY disorder of sex development.
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spelling pubmed-62306682018-11-19 GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development Shimizu, Daisuke Iwashima, Satoru Sato, Keisuke Hayano, Satoshi Fukami, Maki Saitsu, Hirotomo Ogata, Tsutomu Clin Case Rep Case Reports We identified a heterozygous p.(R284H) variant of GATA4 in a Japanese family with atrial septal defect, including boys with apparently normal male sex development. The findings, together with the previous data, imply that GATA4 variants primarily cause congenital heart disease and rarely result in 46,XY disorder of sex development. John Wiley and Sons Inc. 2018-10-11 /pmc/articles/PMC6230668/ /pubmed/30455927 http://dx.doi.org/10.1002/ccr3.1851 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Shimizu, Daisuke
Iwashima, Satoru
Sato, Keisuke
Hayano, Satoshi
Fukami, Maki
Saitsu, Hirotomo
Ogata, Tsutomu
GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
title GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
title_full GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
title_fullStr GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
title_full_unstemmed GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
title_short GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development
title_sort gata4 variant identified by whole‐exome sequencing in a japanese family with atrial septal defect: implications for male sex development
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230668/
https://www.ncbi.nlm.nih.gov/pubmed/30455927
http://dx.doi.org/10.1002/ccr3.1851
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