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 ...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.展开更多
Background: Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA ...Background: Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA editing enzyme have recently been identified. Objectives: To identify gene mutations of DSRAD in Chinese patients with DSH. Methods: Three unrelated Chinese patients with DSH were subjected to mutation detection in DSRAD. Two had family histories of DSH. All the coding exons and their flanking sequences were amplified and sequenced. Results: All three patients had heterozygous mutations including one non-sense, one frameshift and one missense mutation in DSRAD. Conclusions: Two novel mutations, c.3169delC (p.L1057fs) and C.3247C→T (p.R1083C), and one recurrent mutation C.1420C →T (p.R474X), were found in this series of Chinese patients with DSH.展开更多
文摘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.
文摘Background: Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA editing enzyme have recently been identified. Objectives: To identify gene mutations of DSRAD in Chinese patients with DSH. Methods: Three unrelated Chinese patients with DSH were subjected to mutation detection in DSRAD. Two had family histories of DSH. All the coding exons and their flanking sequences were amplified and sequenced. Results: All three patients had heterozygous mutations including one non-sense, one frameshift and one missense mutation in DSRAD. Conclusions: Two novel mutations, c.3169delC (p.L1057fs) and C.3247C→T (p.R1083C), and one recurrent mutation C.1420C →T (p.R474X), were found in this series of Chinese patients with DSH.
