Send to

Choose Destination
See comment in PubMed Commons below
Arch Dermatol Res. 2006 Dec;298(7):357-60. Epub 2006 Sep 22.

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

Author information

  • 1Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, People's Republic of China.


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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center