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Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria
Author(s) -
Li M.,
Yang L.J.,
Zhu X.H.
Publication year - 2008
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2008.02887.x
Subject(s) - exon , genetics , mutation , gene , adenosine deaminase , transition (genetics) , gene mutation , biology , genodermatosis , chinese family , microbiology and biotechnology , enzyme , biochemistry
Summary 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 limbs. Genetic studies have identified mutations in the DSRAD gene, encoding double‐stranded RNA‐specific adenosine deaminase, to be responsible for this disorder. In this study, we identified a novel mutation of DSRAD gene in a Chinese family with DSH. The mutation is a novel heterozygous nucleotide T→C transition at position 3617 in exon 15 of the DSRAD gene, which induces a M1206T change in the putative deaminase domain of DSRAD . Our study expands the database on the DSRAD gene mutations in DSH.