The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described.
BACKGROUND
Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA editing enzyme have recently been identified.


OBJECTIVE
To identify gene mutations of DSRAD in Chinese patients with DSH.


METHODS
Three unrelated Chinese patients with DSH were subjected to mutation detection in DSRAD. Two had family histories of DSH. All the coding exons and their flanking sequences were amplified and sequenced.


RESULTS
All three patients had heterozygous mutations including one non-sense, one frameshift and one missense mutation in DSRAD.


CONCLUSIONS
Two novel mutations, c.3169delC (p.L1057fs) and c.3247C-->T (p.R1083C), and one recurrent mutation c.1420C-->T (p.R474X), were found in this series of Chinese patients with DSH.
Sun
X-K
XK
Department of Dermatology, the Third Hospital of Hangzhou, Hangzhou, China. sunxiukun@yahoo.com.cn
Xu
A-E
AE
Chen
J-F
JF
Tang
X
X
D000243:Adenosine Deaminase / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics*; D016601:RNA-Binding Proteins
D018389:Codon, Nonsense; D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase