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.
A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. Publishing Authors By Initials
A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. Journal Published:
PUBLICATION TYPE: Research Support, Non-U.S. Gov
Journal: Archives of dermatological research
VOLUME: 299
Page Numbers: 273-5
Journal Abbreviation: Arch. Dermatol. Res.
ISSN: 0340-3696
DAY: 14
MONTH: 06
YEAR: 2007
A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. Information
Number of References:
LANGUAGE: eng
NlmUniqueID: 8000462
A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. Keywords Mesh Terms:
KEYWORDS: Pigmentation Disorders
MESH TERMS: genetics
Chemical & Substance for Abstract: A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. Information
Substance Name: Adenosine Deaminase
Registry Number: EC 3.5.4.4
Grant and Affiliation Information for A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria.
AFFILIATION: Department of Dermatology, The Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu 214002, China. aypyslm@163.com
Country: Germany
AGENCY:
GRANT:
ACRONYM:
MEDLINETA: Arch Dermatol Res
REFSOURCE:
DATABASENAME:
ACCESSION NUMBER:
Number Hits: 0
A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria Related Publications
