Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation

摘要

>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.