Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria.
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.
Li
M
M
Department of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University and, Wuxi No 2 People's Hospital, Wuxi, Jiangsu, China. aypyslm@163.com
Yang
L-J
LJ
Zhu
X-H
XH
D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D016601:RNA-Binding Proteins
D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase