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

Authors

  • Elaine K. Green,

    Corresponding author
    • MRC Center for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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  • Katherine Gordon-Smith,

    1. MRC Center for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    2. Department of Psychiatry, Neuropharmacology and Neurobiology Section, National Centre for Mental Health, University of Birmingham, Birmingham, UK
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  • Susan M. Burge,

    1. Department of Dermatology, The Churchill Hospital, Oxford, UK
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  • Detelina Grozeva,

    1. MRC Center for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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  • Colin S. Munro,

    1. Department of Dermatology, Southern General Hospital, Glasgow, UK
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  • Sherine Tavadia,

    1. Department of Dermatology, Crosshouse Hospital, Ayrshire, UK
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  • Lisa Jones,

    1. Department of Psychiatry, Neuropharmacology and Neurobiology Section, National Centre for Mental Health, University of Birmingham, Birmingham, UK
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  • Nicholoas Craddock

    1. MRC Center for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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Correspondence: Elaine Green, Ph.D., MRC Center for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. Email: greenek@cf.ac.uk

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.

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