CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome

L. J. M. T. Parren, J. M. Baron, S. Joussen, Y. Marquardt, S. Hanneken, M. A. M. van Steensel, P. M. Steijlen, M. van Geel, J. Frank (Lead / Corresponding author)

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    Abstract

    Brooke-Spiegler syndrome (BSS; OMIM 605041), also known as familial cylindromatosis (OMIM 132700), is an autosomal dominant tumour predisposition disorder characterised by the occurrence of cylindromas, trichoepitheliomas, and spiradenomas.BSS is caused by heterogenous mutations in the CYLD gene. To date, different CYLD mutations have been reported, most of them resulting in a premature termination codon (PTC).2Among these, thirteen splice site mutations have been described. However, it remains largely elusive how such mutations affect splicing. This article is protected by copyright. All rights reserved.

    Original languageEnglish
    Pages (from-to)e331-e333
    Number of pages2
    JournalJournal of the European Academy of Dermatology and Venereology
    Volume32
    Issue number8
    Early online date25 Feb 2018
    DOIs
    Publication statusPublished - Aug 2018

    Keywords

    • Journal article
    • Brooke-Spiegler syndrome
    • CYLD
    • Familial cylindromatosis
    • mRNA decay
    • Splice site mutation

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