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.
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。
