A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria
“A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria”, vol. 11, pp. 1731-1737, 2012.
, Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We studied a Chinese family that included four affected individuals with DSH phenotypes. PCR and direct sequencing were carried out to detect the entire coding region and exon-intron boundaries of the DSRAD gene.