Miriam J Smith, Emily-Jayne Shell, George J Burghel, Megan Carney, Sarah J Waller, Alan Hakim, D Gareth Evans
{"title":"A Novel <i>PTCH1</i> Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.","authors":"Miriam J Smith, Emily-Jayne Shell, George J Burghel, Megan Carney, Sarah J Waller, Alan Hakim, D Gareth Evans","doi":"10.1159/000545453","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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 <i>PTCH1</i> gene, although a minor subset have a pathogenic variant in the <i>SUFU</i> gene.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":"1-6"},"PeriodicalIF":0.9000,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12052356/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000545453","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
