A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report

Rationale: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare clinical disease characterized by a disproportionate number of basal cell carcinoma to sun exposure and skin types. Patched 1 (PTCH1) gene is proposed to be implicated in the pathogenesis of NBCCS. This study aimed to investigate whether PTCH1 gene is the causative gene in Chinese patients with NBCCS.

Patient concerns: Here we detected the first nonsense mutation in PTCH1 gene by Sanger sequencing of blood samples from a mother and her second daughter (NM000264: exon14: c.2080C>T: p.Q694X).

Diagnoses: Both of the mother and her second daughter had ovarian mature teratomas.

Interventions: The mother received liquid nitrogen cryotherapy, surgical resection, and radiation therapy, while her second daughter was treated with a GX-III multifunctional ion surgical therapy machine and surgery.

Outcomes: New rashes continued to appear and contractures of the right eyelid healed in the mother, while her second daughter had multiple pitting depressions on the palms and soles of both hands and feet.

Conclusion: We detected a new mutation in PTCH1 gene in 2 patients with NBCCS, and both of them had ovarian mature teratomas, which are related to NM000264: exon14: c.2080C>T: p.Q694X.