Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia

VernacularTitle:一个中国先天性有汗性外胚层发育不良家系的GJB6基因筛查
Author: Mousumi TANIA ; Zhimin XIONG ; Lina LU ; Shuanglin LIU ; Kun XIA ; Zhengmao HU
Publication Type:Journal Article
Keywords: alopecia; congenital nail clubbing; missense mutation; palmoplantar hyperkeratosis
From: Journal of Central South University(Medical Sciences) 2013;38(8):761-765
CountryChina
Language:Chinese
Abstract: Objective:Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family.
Methods:We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced.
Results:Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals.
Conclusion:A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.