ArticleFamilial cancer2017
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.
Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 19 citations in OpenAlex.
- Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.Frontiers in medicine · 2026Article
- A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane.BMC ophthalmology · 2025Article
- Basal Cell Nevus Syndrome and Sporadic Basal Cell Carcinoma: A Comparative Study of Clinicopathological Features.Acta dermato-venereologica · 2025Article
- Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations.Asian journal of andrology · 2024Article
- Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.Rare tumors · 2024Article
- A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.Human genome variation · 2023Article
- Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in theCurrent issues in molecular biology · 2023Article
- Fyn and Lyn gene polymorphisms impact the risk of thyroid cancer.Molecular genetics and genomics : MGG · 2022Article
- A case of skin lesions of basal cell nevus syndrome.Postepy dermatologii i alergologii · 2021Article
- Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.Human genome variation · 2020Article
- A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome.Medical molecular morphology · 2019Article
- Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.Molecular genetics & genomic medicine · 2018Article
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Authors and funding
9 authors at 2 institutions in 1 country.
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Abstract
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. To date, we have detected 73 mutations in PTCH1 and ten of them (14 %) were suspected splicing mutations. Eight out of the ten mutations were localized near the splice donor site. Five mutations were localized within the invariant GT-AG splice site, whereas the other five mutations occurred outside the invariant GT-AG site including the last exonic nucleotide. When the transcripts were examined, all mutations resulted in aberrant splicing, including exon skipping or the activation of cryptic splice sites. This is the first extensive report of NBCCS focusing on splice site mutations, and it highlights the importance of analyzing transcripts especially for mutations lying outside the GT-AG splicing consensus site. In addition, the splice site score calculated by Splice-Site Analyzer Tool provided by Tel Aviv University helped predict aberrant splice patterns in most of the cases.
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