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 language | English |
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Pages (from-to) | e331-e333 |
Number of pages | 2 |
Journal | Journal of the European Academy of Dermatology and Venereology |
Volume | 32 |
Issue number | 8 |
Early online date | 25 Feb 2018 |
DOIs | |
Publication status | Published - Aug 2018 |
Keywords
- Journal article
- Brooke-Spiegler syndrome
- CYLD
- Familial cylindromatosis
- mRNA decay
- Splice site mutation
ASJC Scopus subject areas
- Infectious Diseases
- Dermatology