title: A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.
abstract: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A-->G transition at position 2879 in exon 10 of the DSRAD gene was detected.
authors.affiliation: Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei, People's Republic of China.
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: Y X
authors.initials: YX
authors.lastname: Jiang
authors.forename: J B
authors.initials: JB
authors.lastname: Liu
authors.forename: S
authors.initials: S
authors.lastname: Yang
authors.forename: P P
authors.initials: PP
authors.lastname: He
authors.forename: M
authors.initials: M
authors.lastname: Gao
authors.forename: S C
authors.initials: SC
authors.lastname: Wei
authors.forename: K L
authors.initials: KL
authors.lastname: Yan
authors.forename: W
authors.initials: W
authors.lastname: Huang
authors.forename: X J
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D002681:China; D005260:Female; D006225:Hand; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*
chemical_list: D000243:Adenosine Deaminase