Affordable Access

Access to the full text

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

Authors
  • Zhan, Yi1
  • Luo, Shuaihantian1
  • Pi, Zixin1
  • Zhang, Guiying1
  • 1 The Second Xiangya Hospital of Central South University, Changsha, 410011, China , Changsha (China)
Type
Published Article
Journal
Hereditas
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Aug 25, 2020
Volume
157
Issue
1
Identifiers
DOI: 10.1186/s41065-020-00148-8
Source
Springer Nature
Keywords
License
Green

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.

Report this publication

Statistics

Seen <100 times