A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia

Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different...

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Autores principales: Zhan, Yi, Luo, Shuaihantian, Pi, Zixin, Zhang, Guiying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446134/
https://www.ncbi.nlm.nih.gov/pubmed/32843087
http://dx.doi.org/10.1186/s41065-020-00148-8
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author Zhan, Yi
Luo, Shuaihantian
Pi, Zixin
Zhang, Guiying
author_facet Zhan, Yi
Luo, Shuaihantian
Pi, Zixin
Zhang, Guiying
author_sort Zhan, Yi
collection PubMed
description Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different populations. Here, we reported a big Chinese family in which 24 patients over five generations were suffered with HED. Sequence analysis identified all 24 patients carry a recurrent missense mutation c.263C > T (p.A88V) in GJB6. Our results reveal gene testing of GJB6 is important for diagnosis, prenatal diagnosis and future gene treatment of HED.
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spelling pubmed-74461342020-08-26 A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia Zhan, Yi Luo, Shuaihantian Pi, Zixin Zhang, Guiying Hereditas Brief Report Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different populations. Here, we reported a big Chinese family in which 24 patients over five generations were suffered with HED. Sequence analysis identified all 24 patients carry a recurrent missense mutation c.263C > T (p.A88V) in GJB6. Our results reveal gene testing of GJB6 is important for diagnosis, prenatal diagnosis and future gene treatment of HED. BioMed Central 2020-08-25 /pmc/articles/PMC7446134/ /pubmed/32843087 http://dx.doi.org/10.1186/s41065-020-00148-8 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Brief Report
Zhan, Yi
Luo, Shuaihantian
Pi, Zixin
Zhang, Guiying
A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
title A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
title_full A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
title_fullStr A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
title_full_unstemmed A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
title_short A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
title_sort recurrent mutation of gjb6 in a big chinese family with hidrotic ectodermal dysplasia
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446134/
https://www.ncbi.nlm.nih.gov/pubmed/32843087
http://dx.doi.org/10.1186/s41065-020-00148-8
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