Format

Send to

Choose Destination
See comment in PubMed Commons below
Arch Dermatol Res. 2007 Aug;299(5-6):273-5. Epub 2007 Jun 14.

A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria.

Author information

  • 1Department of Dermatology, The Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu 214002, China. aypyslm@163.com

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have been identified. In this report, we identified a Chinese family with a three-generation pedigree of DSH, in which a novel heterozygous nucleotide G-->A transition was found. It is at position 3,125 in exon 12 of the DSRAD gene which induces a R1042H change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.

PMID:
17569068
DOI:
10.1007/s00403-007-0762-9
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center