Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria.

@article{Liu2011IdentificationOT,
  title={Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria.},
  author={Huaxu Liu and X-A Fu and Y-X Yu and G-Q Yu and X-x Yan and H Liu and H-Q Tian and F-R Zhang},
  journal={Clinical and experimental dermatology},
  year={2011},
  volume={36 7},
  pages={797-9}
}
Dyschromatosis symmetrica hereditaria (DSH) is a rare, autosomal dominant dermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsa of the hands and feet. The DSH locus has been mapped to chromosome 1q21, and in 2003, pathogenic mutations were identified in the ADAR1 (adenosine deaminase acting on RNA1) gene. In this study, we performed mutation detection of the ADAR1 gene in two Chinese families with DSH. PCR and direct sequencing of the ADAR1 gene were… CONTINUE READING