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01-08-2010 | Original Paper

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria

Authors: Ming Li, Lijia Yang, Chengrang Li, Cheng Jin, Meiling Lai, Guolong Zhang, Yan Hu, Jin ji, Zhirong Yao

Published in: Archives of Dermatological Research | Issue 6/2010

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities and caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We screened 14 unrelated families or sporadic cases for mutation in the full coding sequence of this gene. Eight novel heterozygous mutations of ADAR1 and four known mutations were identified, including four missense mutations (p.R26K, p.Y1192D, p.R916Q, p.R1155W), six frameshift mutations (p.N205fsX217, p.V211fsX217, p.V404fsX417, p.I914fsX927, p.L1053fsX1076, p.L1070fs1092), and two nonsense mutations (p.R474X, p.R1096X). Interestingly, we failed to detect any mutations of ADAR1 in one family. Including our data, there are now 93 different mutations reported in 105 independent patients that we have tabulated. From the review of clinical features in these reports, we found that the same mutation could lead to different phenotypes even in the same family and did not establish a clear correlation between genotypes and phenotypes. Finally this study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ADAR1 gene.

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Title: Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria
Authors: Ming Li
Lijia Yang
Chengrang Li
Cheng Jin
Meiling Lai
Guolong Zhang
Yan Hu
Jin ji
Zhirong Yao
Publication date: 01-08-2010
Publisher: Springer-Verlag
Published in: Archives of Dermatological Research / Issue 6/2010
Print ISSN: 0340-3696
Electronic ISSN: 1432-069X
DOI: https://doi.org/10.1007/s00403-010-1039-2

At a glance: The STEP trials

Springer Medicine

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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