A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.
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.
Li
M
M
Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei, People's Republic of China.
Jiang
Y X
YX
Liu
J B
JB
Yang
S
S
He
P P
PP
Gao
M
M
Wei
S C
SC
Yan
K L
KL
Huang
W
W
Zhang
X J
XJ
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*
D000243:Adenosine Deaminase