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Article

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Familial cancer - 1 Sept 2014

Bholah Zaynab, Smith Miriam J, Byers Helen J, Miles Emma K, Evans D Gareth, Newman William G

Abstract excerpt

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...

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Source

Identifiers

PMID: 24659465
DOI: 10.1007/s10689-014-9712-9

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.PMID 24659465Read ↗

A novel PTCH1 mutation in a patient with Gorlin syndromeSemantic proximity Read ↗

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.Semantic proximity Read ↗

Genetic Analysis of Gorlin Syndrome Using a Multiplex PCR Gene Panel, and Its Potential Clinical Utility for Liquid BiopsySemantic proximity Read ↗

Spectrum of PTCH1 Mutations in French Patients with Gorlin SyndromeSemantic proximity Read ↗

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)Semantic proximity Read ↗

Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.Semantic proximity Read ↗

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.Semantic proximity Read ↗

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.Semantic proximity Read ↗

Development of a targeted gene panel for the diagnosis of Gorlin syndrome.Semantic proximity Read ↗

First evidence of genotype–phenotype correlations in Gorlin syndromeSemantic proximity Read ↗

Molecular evidence of type 2 mosaicism in Gorlin syndromeSemantic proximity Read ↗

Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT.Semantic proximity Read ↗

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