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

Br J Ophthalmol. 2005 Aug;89(8):988-91. doi: 10.1136/bjo.2004.061390.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Basal Cell Nevus Syndrome / genetics*
  • Base Sequence
  • Cerebellar Neoplasms / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Medulloblastoma / genetics*
  • Microphthalmos / genetics*
  • Molecular Sequence Data
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface / genetics*
  • Sequence Deletion


  • PTCH protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface