PTCH2 and nevoid basal cell carcinoma syndrome: Assessment of PTCH2 loss-of-function variants identified in the gnomAD cohort, found 355 loss-of-function (frameshift, nonsense and canonical splice-site) variants in the canonical PTCH2 isoform (ENST00000372192.3), equivalent to 1 in 324 individuals, including a single case of a female who was homozygous for p.Ser391*, the same variant identified in the case reported by Fujii et al. [8] and more recently in a report of a Korean patient who also did not fulfil clinical diagnostic criteria for Gorlin syndrome [12].