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Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier Disease.
- Source :
- Clinical & Experimental Dermatology; Mar2015, Vol. 40 Issue 2, p201-203, 3p, 2 Color Photographs
- Publication Year :
- 2015
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03076938
- Volume :
- 40
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Clinical & Experimental Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 101004808
- Full Text :
- https://doi.org/10.1111/ced.12452