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- Title
Four novel mutations of in Chinese patients with dyschromatosis symmetrica hereditaria.
- Authors
Hu, Wei; Shi, Xian; Li, Hongwen; Chen, Luzhu; Wang, Tingmei; Dong, Yingying; Zhang, Yanhong; Hu, Man; Liu, Xiaoli; Zhang, Caie; Liu, Dongxian; Deng, Yunhua
- Abstract
<bold>Background: </bold>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.<bold>Aims: </bold>To provide new evidence for further study of the etiopathogenisis of DSH.<bold>Methods: </bold>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.<bold>Results: </bold>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.<bold>Limitations: </bold>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.<bold>Conclusion: </bold>We found four novel ADAR1 mutations in this study. Our results enlarge the database on ADAR1 mutations associated with DSH.
- Subjects
ADENOSINE deaminase; PATIENTS; POLYMERASE chain reaction; GENOMICS; CHINESE people; ASIANS; GENEALOGY; GENETIC techniques; HYDROLASES; GENETIC mutation; PIGMENTATION disorders; PROTEINS
- Publication
Indian Journal of Dermatology, Venereology & Leprology, 2019, Vol 85, Issue 1, p69
- ISSN
0378-6323
- Publication type
journal article
- DOI
10.4103/ijdvl.IJDVL_66_17