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

作者：Green Elaine K^*; Gordon Smith Katherine; Burge Susan M; Grozeva Detelina; Munro Colin S; Tavadia Sherine; Jones Lisa; Craddock Nicholoas

来源：Journal of Dermatology, 2013, 40(4): 259-266.

DOI：10.1111/1346-8138.12082

• ATP2A2
• Darier disease
• mutations
• novel
• SERCA2

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.

• 出版日期2013-4