Despite exhaustive analysis, PTCH1 mutations are often unidentifiable in some patients [6]; for example, Sanger sequencing of PTCH1 exons 2–23, encompassing the entire coding region, detected mutations in approximately 40%–70% of individuals with a typical clinical presentation of Gorlin syndrome [8, 9]. The gene discussed is PTCH1; the disease is nevoid basal cell carcinoma syndrome.