Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier Disease
Summary Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD...
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Veröffentlicht in: | Clinical and experimental dermatology 2015-03, Vol.40 (2), p.201-203 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Summary
Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD participated in this study. Genomic sequence analysis identified two novel missense mutations (c.742C>A and c.2098A>G) in the ATP2A2 gene. Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype–phenotype correlations. |
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ISSN: | 0307-6938 1365-2230 |
DOI: | 10.1111/ced.12452 |