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A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria
Author(s) -
Li M.,
Jiang Y. X.,
Liu J. B.,
Yang S.,
He P. P.,
Gao M.,
Wei S. C.,
Yan K. L.,
Huang W.,
Zhang X. J.
Publication year - 2004
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2004.01548.x
Subject(s) - genodermatosis , exon , genetics , mutation , gene , transition (genetics) , medicine , gene mutation , biology
Summary 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.