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Novel ATP2A2 mutations in a large sample of individuals with D arier disease
Author(s) -
Green Elaine K.,
GordonSmith Katherine,
Burge Susan M.,
Grozeva Detelina,
Munro Colin S.,
Tavadia Sherine,
Jones Lisa,
Craddock Nicholoas
Publication year - 2013
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.12082
Subject(s) - genetics , disease , biology , pathogenesis , mutation , gene , coding region , medicine , immunology , pathology
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 SERCA 2. 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 .