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The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N. Farkas K, et al. Among authors: deak bk. BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. BMC Genet. 2016. PMID: 26861065 Free PMC article.