Lai M L, Yang L J, Zhu X H, Li M
Department of Dermatology, Second Hospital of Wuxi Affiliated to Nanjing Medical University, Wuxi, Jiangsu, China.
Genet Mol Res. 2012 Jun 29;11(2):1731-7. doi: 10.4238/2012.June.29.5.
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.
遗传性对称性色素异常症（DSH）是一种常染色体显性遗传性皮肤病，其特征为色素沉着过度和色素沉着不足的斑疹混合出现，主要分布于四肢背部。已在双链RNA特异性腺苷脱氨酶（DSRAD）基因中鉴定出致病突变。我们研究了一个中国家庭，其中有四名患有DSH表型的患者。采用聚合酶链反应（PCR）和直接测序法检测DSRAD基因的整个编码区和外显子-内含子边界。在先证者及其父亲中检测到DSRAD基因第11外显子有一个新的核苷酸c.3002G>T错义突变。这一信息扩展了与DSH相关的DSRAD基因突变数据库。
