PTCH1 gene is involved in the pathogenesis of NBCCS.[3] In this study, the proband and her second daughter had a nonsense mutation (NM000264: exon14: c.2080C>T: p.Q694X) at nucleotide C at exon 2080 of PTCH1 gene, leading to prematurely terminated peptide chain synthesis. Here, PTCH1 is linked to nevoid basal cell carcinoma syndrome.