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Scientific reports
Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation
Abstract
Aim: To identify a gene linking microphthalmia with cyst with early onset medulloblastoma.
Methods: Mutation analysis of the PTCH gene.
Results: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome.
Conclusions: This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developmental gene pathway.
- BCC, basal cell carcinoma
- SHH, sonic hedgehog
- Gorlin syndrome
- PTCH gene
- cyst
- medulloblastoma
- microphthalmia
- BCC, basal cell carcinoma
- SHH, sonic hedgehog
- Gorlin syndrome
- PTCH gene
- cyst
- medulloblastoma
- microphthalmia