Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

@article{Wang2015ExomeSR,
  title={Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.},
  author={Hui Jun Wang and Xu Cao and Zhimiao Lin and Mingyang Lee and Xinying Jia and Ya-li Ren and Lanlan Dai and Liping Guan and Jianguo Zhang and Xuan Yu Lin and Jie Zhang and Quan Sheng Chen and Cheng Feng and Eray Yihui Zhou and Jinghua Yin and Guiwen Xu and Yong Yang},
  journal={Human molecular genetics},
  year={2015},
  volume={24 1},
  pages={
          243-50
        }
}
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 phenotype in the family. In an additional affected individual, we also found the… CONTINUE READING