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

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).² Among these, thirteen splice site mutations have been described. However, it remains largely elusive how such mutations affect splicing.

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