Background: Dyschromatosis symmetrica hereditaria (DSH) is a highly penetrant autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities. Genetic studies have identified pathogenic mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene as responsible for this disorder.
Objectives: To identify additional gene mutations of DSRAD in patients with DSH.
Methods: Two Chinese families with typical DSH were subjected to mutation detection in DSRAD. All DSRAD exons and their flanking intronic sequences were amplified and sequenced.
Results: Two novel mutations in the functional domains of the DSRAD gene were identified in two pedigrees. The c. 3140G>A(p.G1047D) mutation was found in all patients but not in the healthy individuals from the same family (I) and c.1760 A>G(p.Y587C) mutation was found in all the patients but not in the healthy family members (II).
Conclusions: Two novel DSRAD mutations, p.G1047D and p.Y587C, were found in Chinese patients with DSH and our data add new variants to the knowledge of DSRAD mutations in DSH.
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Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria.
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Department of Dermatology, Tongji Hospital of Tongji University, Shanghai, 200065, China, Department of Dermatology, Fujian Medical University Union Hospital, Fuzhou, 350001, China.
Background: Dyschromatosis symmetrica hereditaria (DSH) is a highly penetrant autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities. Genetic studies have identified pathogenic mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene as responsible for this disorder.
Objectives: To identify additional gene mutations of DSRAD in patients with DSH.
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.
Genet Mol Res
June 2012
Department of Dermatology, Second Hospital of Wuxi Affiliated to Nanjing Medical University, Wuxi, Jiangsu, China.
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We studied a Chinese family that included four affected individuals with DSH phenotypes.
View Article and Find Full Text PDFTwo novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.
Int J Dermatol
August 2012
Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Background: Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant disorder characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by the mutations in the DSRAD gene.
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