Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Green, E., Gordon-Smith, K., Burge, S., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Munro, C., Tavadia, S., Jones, L. and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2013. Novel ATP2A2 mutations in a large sample of individuals with Darier disease. The Journal of Dermatology 40 (4) , pp. 259-266. 10.1111/1346-8138.12082

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Abstract

Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and encodes for SERCA2. We have screened the coding regions of ATP2A2 in a total of 95 unrelated individuals with DD to identify the pathogenic mutations. We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. Forty-nine (74%) are unique to an individual and 17 (26%) were found in more than one individual or overlap with previously identified variants. The results suggest that mutations in ATP2A2 may not be as family-specific as first thought. The spectrum of mutations identified will inform understanding of the pathogenesis of DD.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Uncontrolled Keywords:	Darier Disease; Female; Genetic Predisposition to Disease; Humans; Male; Mutation; Pedigree; Polymerase Chain Reaction; Sarcoplasmic Reticulum Calcium-Transporting ATPases
Publisher:	Wiley
ISSN:	0385-2407
Date of Acceptance:	25 November 2012
Last Modified:	16 Nov 2022 08:11
URI:	https://orca.cardiff.ac.uk/id/eprint/76482

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