鉴定一个中国大家族性天疱疮患者 ATP2A2 基因中的 c.632G>A(p.G211D)突变及其基因型-表型相关性。
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.
机构信息
Department of Dermatology, the First People's Hospital of Qujing City, Qujing, Yunnan.
Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan.
出版信息
Int J Dermatol. 2011 Nov;50(11):1366-1370. doi: 10.1111/j.1365-4632.2011.05129.x.
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. Genotype-phenotype correlation in available family members provided helpful genetic counseling information for mutation carriers.
Darier 病（DD，MIM 124200）是一种常染色体显性遗传的皮肤疾病。ATP2A2 基因突变，该基因编码肌浆/内质网 Ca(2+) -ATPase 同工酶 2（SERCA2），导致这种皮肤疾病。本文报道了一个中国大型 DD 家系的临床、遗传学和分子特征。我们在该家系中发现了 ATP2A2 基因的 c.632G>A（p.G211D）突变。对现有家庭成员的基因型-表型相关性分析为突变携带者提供了有价值的遗传咨询信息。
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