Abstract

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.

Details

Title
A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
Author
Zhan, Yi  VIAFID ORCID Logo  ; Luo, Shuaihantian; Pi, Zixin; Zhang, Guiying
Pages
1-4
Section
Brief report
Publication year
2020
Publication date
2020
Publisher
Nature Publishing Group
ISSN
00180661
e-ISSN
16015223
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1186/s41065-020-00148-8
ProQuest document ID
2444126778
Copyright
© 2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.