Darier's disease (DD) is caused by mutations in the ATP2A2 gene, encoding SERCA2, a P-type ATPase [
[1]
]. Clinically, DD is a disorder of keratinization with warty papules and plaques predominantly
on the seborrheic areas of the skin. The oral mucosa and nails can also be involved.
We performed mutation analysis of the ATP2A2 gene in two families and one sporadic case with DD. In each case, the diagnosis was
confirmed by clinical and histopathological findings.Keywords
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References
- Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.Nat Genet. 1999; 21: 271-277
- Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.Exp Dermatol. 2004; 13: 396-399
- Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.Proc Natl Acad Sci USA. 1993; 90: 10325-10329
- Functional consequences of mutations of conserved amino acids in the β-strand domain of the Ca2+-ATPase of sarcoplasmic reticulum.J Biol Chem. 1990; 24: 14088-14092
Article info
Publication history
Received:
December 28,
2004
Identification
Copyright
© 2005 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
