TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome

Genomize-SEQ CNV analysis in Durmaz et al. (2026) detected a TMC6 deletion that prompted optical genome mapping, revealing the first complex TMC6/TMC8 structural rearrangement in hereditary EV and four novel pathogenic variants across five Turkish families.