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  • Title: A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.
    Author: Kazakov DV, Thoma-Uszynski S, Vanecek T, Kacerovska D, Grossmann P, Michal M.
    Journal: Am J Dermatopathol; 2009 Oct; 31(7):664-73. PubMed ID: 19668078.
    Abstract:
    We present a case of Brooke-Spiegler syndrome with a germline deep intronic mutation in the CYLD gene leading to intronic exonization. Additionally, diverse somatic mutations were identified, namely loss of heterozygosity, a recurrent nonsense mutation, and a sequence mutation causing exon skipping. These somatic aberrations were identified in 4 different cylindromas that had been removed from the patient. Additionally, we microscopically studied a spiradenocylindroma that showed unusual histology, including foci of follicular differentiation. A deep intronic mutation resulting in exonization and a somatic sequence mutations causing exon skipping are hitherto unreported genetic mechanisms involving the CYLD gene in patients with Brooke-Spiegler syndrome.
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