Open AccessFour novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria
Author(s) -
Wei Hu,
Xian Shi,
Hongwen Li,
Lu-Zhu Chen,
Tingmei Wang,
Yingying Dong,
Yanhong Zhang,
Man Hu,
Xiaoli Liu,
Cai'e Zhang,
Dongxian Liu,
Yansha Deng
Publication year - 2019
Publication title -
indian journal of dermatology, venereology, and leprology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.514
H-Index - 45
eISSN - 0973-3922
pISSN - 0378-6323
DOI - 10.4103/ijdvl.ijdvl_66_17
Subject(s) - exon , genetics , intron , mutation , gene , adar , microbiology and biotechnology , biology , genomic dna , rna editing
Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). DSH patients display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities, and freckle-like macules on the face.