Abstract: Objective: To detect the PTCH1 gene mutation in a patient with nevoid basal cell carcinoma syndrome. Method: Peripheral blood samples were collected from the patient, her family members, and 200 unrelated healthy controls. DNA was extracted from the blood samples, and subjected to PCR for the amplification of 23 encoding exons and their franking sequences of the PTCH1 gene, followed by DNA sequencing. Results: There was a heterozygous nonsense mutation of c. 590G>A in PTCH1 gene of the patient, resulting in the change of amino acid of p.W197X,. This mutation was not detected in any of the family members and the 200 unrelated healthy controls. Conclusion: Heterozygous mutation p.W197X may be the underlying cause of the clinical phenotype of nevoid basal cell carcinoma syndrome in this patient.

Key words: nevoid basal cell carcinoma syndrome, PTCH1, mutation