Article
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Human molecular genetics - 1 Jan 2015
Wang Huijun, Cao Xu, Lin Zhimiao, Lee Mingyang, Jia Xinying, Ren Yali, Dai Lanlan, Guan Liping, Zhang Jianguo, Lin Xuan, Zhang Jie, Chen Quan, Feng Cheng, Zhou Eray Yihui, Yin Jinghua, Xu Guiwen, Yang Yong
Abstract excerpt
Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. The genetic defect underlying KHLS remained undetermined. By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which cosegregated with the...
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