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Article

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

American journal of medical genetics. Part A - 1 Oct 2024

Mochizuki Aaron Y, Nagaraj Chinmayee B, Depoorter Douglas, Schieffer Kathleen M, Kim Sun Young

Abstract excerpt

Gorlin syndrome can be caused by pathogenic/likely pathogenic (P/LP) variants in the tumor suppressor gene PTCH1 (9q22.1-q31), which encodes the receptor for the sonic hedgehog (SHH) ligand. We present a 12-month-old boy clinically diagnosed with Gorlin syndrome who was found to have significantly delayed development, palmar pitting, palmar and plantar keratosis, short hands, frontal bossing, coarse face,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38864234
DOI: 10.1002/ajmg.a.63788

Genes

PTCH1
SHH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.PMID 38864234Read ↗

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

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

First evidence of genotype–phenotype correlations in 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 ↗

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

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.Semantic proximity Read ↗

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

Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.Semantic proximity Read ↗

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.Semantic proximity Read ↗

PAEDIATRIC TUMOURS IN GORLIN SYNDROME: EXPANDING THE GENETIC INSIGHTSSemantic proximity Read ↗

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

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.Semantic proximity Read ↗

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