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- Title
Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.
- Authors
Wei Hu; Xian Shi; Hongwen Li; Luzhu Chen; Tingmei Wang; Yingying Dong; Yanhong Zhang; Man Hu; Xiaoli Liu; Caie Zhang; Dongxian Liu; Yunhua Deng
- Abstract
Background: 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. Aims: To provide new evidence for further study of the etiopathogenisis of DSH. Methods: Genomic DNA was extracted and used as a template for the polymerase chain reaction (PCR) amplification of all 15 coding exons as well as intron-exon boundaries of ADAR1. The PCR products were sequenced directly. Results: We identified eight mutations of ADAR1 in four Chinese pedigrees and four individual patients, which were c.2722G>T, p.(Asp908Tyr), c.1657delA, p.(Ser553fs), c.2563_2564delCT, p.(Leu855fs), c.526T>G, p.(Leu176Val) as well as four previously reported mutations c. 3363_3364insT, p.(Lys1122fs), c. 2865_2866delGT, p.(Val955fs), c.1630C>T, p.(Arg544X), and c.2894C>T, p.(Pro965Leu). In silico analysis predicted that all the mutations reported were pathogenic. Limitations: We did not study how ADAR1 played its role in DSH. So, the exact pathogenic mechanism of ADAR1 in DSH patients wasn't clarified in this study. Conclusion: We found four novel ADAR1 mutations in this study. Our results enlarge the database on ADAR1 mutations associated with DSH.
- Subjects
GENETIC mutation; ADENOSINES; DEAMINASES; HYPERPIGMENTATION; POLYMERASE chain reaction
- Publication
Indian Journal of Dermatology, Venereology & Leprology, 2019, Vol 85, Issue 1, p69
- ISSN
0378-6323
- Publication type
Article
- DOI
10.4103/ijdvl.IJDVL_66_17