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Identification of mutation c. 632G > A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease

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收录情况： ◇ SCIE

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机构： [1]Department of Dermatology, the First People’s Hospital of Qujing City, Qujing, Yunnan, [2]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, [3]Graduate School of the Chinese Academy of Sciences, Beijing, [4]Department of Dermatology, the First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan, China

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摘要：

Darier's disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c. 632G> A (p. G211D) in the ATP2A2 gene in this family. Genotypephenotype correlation in available family members provided helpful genetic counseling information for mutation carriers.

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出版当年[2011]版：

大类 | 4 区医学

小类 | 4 区皮肤病学

最新[2023]版：

大类 | 4 区医学

小类 | 3 区皮肤病学

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出版当年[2010]版：

Q3 DERMATOLOGY

最新[2023]版：

Q1 DERMATOLOGY

影响因子： 3.5 最新[2023版] 3.1 最新五年平均 1.265 出版当年[2010版] 1.485 出版当年五年平均 1.177 出版前一年[2009版] 1.142 出版后一年[2011版]

第一作者：

第一作者机构： [1]Department of Dermatology, the First People’s Hospital of Qujing City, Qujing, Yunnan, [2]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan,

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通讯作者：

通讯机构： [2]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, [*1]Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology Chinese Academy of Sciences, Kunming, Yunnan 650223 China

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