Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

Zhang, Guolong, Shao, Minhua, Li, Zhixiu, Gu, Yong, Du, Xufeng, Wang, Xiuli and Li, Ming (2016) Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. BMC Medical Genetics, 17 1: 1-6. doi:10.1186/s12881-015-0255-1


Author Zhang, Guolong
Shao, Minhua
Li, Zhixiu
Gu, Yong
Du, Xufeng
Wang, Xiuli
Li, Ming
Title Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene
Formatted title
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene
Journal name BMC Medical Genetics   Check publisher's open access policy
ISSN 1471-2350
Publication date 2016-02-18
Year available 2016
Sub-type Article (original research)
DOI 10.1186/s12881-015-0255-1
Open Access Status DOI
Volume 17
Issue 1
Start page 1
End page 6
Total pages 6
Place of publication London, United Kingdom
Publisher BioMed Central
Collection year 2017
Language eng
Formatted abstract
Background
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of ADAR1 gene.

Methods
ADAR1 gene was sequenced in seven unrelated families and two sporadic cases with DSH and 120 controls. Functional significance of the observed ADAR1 mutations was analyzed using PolyPhen 2, SIFT and DDIG-in.

Results
We describe six novel mutations of the ADAR1 gene in Chinese patients with DSH including a nonstop mutation p.Stop1227R, which was firstly reported in ADAR1 gene. In silico analysis proves that all the mutations reported here are pathogenic.

Conclusion
This study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ADAR1 gene. A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.
Keyword Dyschromatosis symmetrica hereditaria
Mutation
Nonstop
ADAR1
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: HERDC Pre-Audit
UQ Diamantina Institute Publications
 
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