Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier disease.
Clin Exp Dermatol
; 40(2): 201-3, 2015 Mar.
Article
in En
| MEDLINE
| ID: mdl-25283811
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.
Full text:
1
Database:
MEDLINE
Main subject:
Mutation, Missense
/
Sarcoplasmic Reticulum Calcium-Transporting ATPases
/
Darier Disease
Type of study:
Prognostic_studies
Limits:
Adult
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Clin Exp Dermatol
Year:
2015
Type:
Article
Affiliation country:
China