Fig. 1

Reported CYLD germline mutations in patients with the CYLD cutaneous syndrome [1, 11, 17, 19–23, 25, 26, 81, 120]. The frequency of familial cases of CYLD cutaneous syndrome with germline CYLD mutations, and the corresponding amino acid positions affected by these mutations are indicated (as detailed in Table 1 and predicted using the Integrative Genomics Viewer (IGV) software, the Broad Institute, USA). The CYLD protein contains three CAP-GLY domains (aa 155–198, 253–286, 492–535), a UCH catalytic domain (aa 591–950) and a Zinc binding region (aa 778–842) within in the catalytic domain based on the NCBI number NP_056062.1