A Novel <i>PTCH1</i> Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.

ABSTRACT:

Introduction

Gorlin syndrome (GS) is a rare autosomal dominant condition that predisposes to cutaneous basal cell carcinomas, jaw keratocysts, and skeletal anomalies. Most patients with GS have a heterozygous pathogenic variant in the PTCH1 gene, although a minor subset have a pathogenic variant in the SUFU gene.

Case presentation

We report a 34-year-old woman meeting clinical diagnostic criteria for GS and with an affected father who also meets diagnostic criteria. Both had a novel germline splice-region variant that was originally classified as a variant of uncertain significance.

Conclusion

We used cDNA analysis to provide additional evidence to allow re-classification of the non-canonical splice variant and provide a formal genetic diagnosis that can

SUBMITTER: Smith MJ 

PROVIDER: S-EPMC12052356 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature