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

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.