Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on face and dorsal aspects of the extremities that appear in infancy or early childhood. Genetic studies have identified mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we report two novel mutations c.2116 G > A (E706K) and c.2848 C > T (Q950X) in the DSRAD gene identified in two Chinese pedigrees with DSH. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH.

• Authors: Jianyun Lu, Zhaohui Liao, Jing Chen, Yaping Xiang, Zhiqiang Wu, Chengxin Zuo, Xianzhen Jiang, Jinhua Huang
• Journal: Archives of dermatological research (Arch Dermatol Res) Vol. 298 Issue 7 Pg. 357-60 (Dec 2006) ISSN: 0340-3696 [Print] Germany
• PMID: 17021765 (Publication Type: Journal Article)

Chemical References

• RNA, Double-Stranded
• Adenosine Deaminase

Topics

• Adenosine Deaminase (genetics)
• Adolescent
• Asian People (genetics)
• Child
• China
• Female
• Genetic Predisposition to Disease
• Genotype
• Humans
• Male
• Mutation, Missense (genetics)
• Pedigree
• Pigmentation Disorders (congenital, ethnology, genetics)
• RNA, Double-Stranded (genetics)