At this regard, we recently reported the missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene – which had been previously reported only in non-syndromic KCOTs - in a familiar case (father and daughter of patient number 1) of classic NBCCS phenotype [17]. Here, PTCH1 is linked to nevoid basal cell carcinoma syndrome.