A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.
| Title: | A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report. |
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| Authors: | Smith MJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, UK.; Shell EJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, UK.; Burghel GJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Cancer Sciences, School of Medical Sciences, The University of Manchester, Manchester, UK.; Carney M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Waller SJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Hakim A; The Harley Street Clinic and University College London Hospitals, London, UK.; Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK. |
| Source: | Molecular syndromology [Mol Syndromol] 2025 Dec; Vol. 16 (6), pp. 653-658. Date of Electronic Publication: 2025 Mar 24. |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Original Publication: Basel : S. Karger |
| 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 also be used for family planning and to screen at-risk relatives.; (© 2025 The Author(s). Published by S. Karger AG, Basel.) |
| Competing Interests: | The authors report no conflicts of interest. |
| Contributed Indexing: | Keywords: Basal cell carcinoma; Ehlers-danlos syndrome; Gorlin syndrome; Keratocyst; PTCH1 |
| Entry Date(s): | Date Created: 20250829 Date Completed: 20251210 Latest Revision: 20251210 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC12052356 |
| DOI: | 10.1159/000545453 |
| PMID: | 40881054 |
| Database: | MEDLINE |
Case Reports; Journal Article