ArticleFamilial cancer2014
Intronic splicing mutations in PTCH1 cause Gorlin syndrome.
Article in Familial cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome).The British journal of dermatology · 2022Guideline
- Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.Hereditary cancer in clinical practice · 2026Article
- Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in theCurrent issues in molecular biology · 2023Article
- Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.Maxillofacial plastic and reconstructive surgery · 2022Review
- Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome.Journal of the European Academy of Dermatology and Venereology : JEADV · 2021Article
- Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients.Eye and brain · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Ocular manifestations in Gorlin-Goltz syndrome.Orphanet journal of rare diseases · 2019Article
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment.Postepy dermatologii i alergologii · 2017Article
- A novel truncating mutation of PTCH1 in a Chinese family with Gorlin syndrome.International journal of clinical and experimental pathology · 2017Article
- Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.Familial cancer · 2017Article
- CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.Familial cancer · 2016Article
- Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.Pediatric blood & cancer · 2015Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gorlin syndrome is an autosomal dominant disorder characterized by multiple early-onset basal cell carcinoma, odontogenic keratocysts and skeletal abnormalities. It is caused by heterozygous mutations in the tumour suppressor PTCH1. Routine clinical genetic testing, by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to confirm a clinical diagnosis of Gorlin syndrome, identifies a mutation in 60-90 % of cases. We undertook RNA analysis on lymphocytes from ten individuals diagnosed with Gorlin syndrome, but without known PTCH1 mutations by exonic sequencing or MLPA. Two altered PTCH1 transcripts were identified. Genomic DNA sequence analysis identified an intron 7 mutation c.1068-10T>A, which created a strong cryptic splice acceptor site, leading to an intronic insertion of eight bases; this is predicted to create a frameshift p.(His358Alafs*12). Secondly, a deep intronic mutation c.2561-2057A>G caused an inframe insertion of 78 intronic bases in the cDNA transcript, leading to a premature stop codon p.(Gly854fs*3). The mutations are predicted to cause loss of function of PTCH1, consistent with its tumour suppressor function. The findings indicate the importance of RNA analysis to detect intronic mutations in PTCH1 not identified by routine screening techniques.
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