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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



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



International Journal of Dermatology 50(11): 1366-1370



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.

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Accession: 053668037

Download citation: RISBibTeXText

PMID: 22004489

DOI: 10.1111/j.1365-4632.2011.05129.x


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