A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria |
| |
Authors: | M L Lai L J Yang X H Zhu M Li |
| |
Affiliation: | Department of Dermatology, Second Hospital of Wuxi Affiliated to Nanjing Medical University, Wuxi, Jiangsu, China. |
| |
Abstract: | 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. A novel nucleotide c.3002G>T missense mutation in the exon 11 of the DSRAD gene was detected in the proband and his father. This information expands the database on DSRAD gene mutations associated with DSH. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|