814 Epigenetically altered expression of the CYLD interacting BAG6 gene is a putative phenotype modifying factor in CYLD cutaneous syndrome

Skin adnexal tumors develop as a consequence of germline pathogenic variants in the cylindomatosis(CYLD) gene patients with Brooke-Spiegler syndrome (BSS), clinical variant CYLD cutaneous syndrome. The first typically present at puberty and they progressively accumulate through adulthood. To improve understanding development skin tumors, we performed here genome-wide methylation analysis on blood DNA samples 16 BSS 6 controls using Infinium Methylation EPIC arrays. Among observed alterations, detected significant differences BAG6 patients, which encodes negative regulator LPS-induced NF-κB signaling interactor TRAF6 protein. Gene expression demonstrated significantly altered mRNA investigated patients. Our results raise possibility that pattern contribute to pathogenesis via altering cell inducibility by microbial compounds.