Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation
- 1Adnexal Service, Moorfields Eye Hospital, London, UK
- 2Department of Human Anatomy and Genetics, University of Oxford, Oxford, and Department of Ophthalmology, Birmingham Children’s Hospital, Birmingham, UK
- 3Great Ormond Street Hospital for Children, London, UK
- 4Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, UK
- Correspondence to: Nicola K Ragge MD, FRCPCH, FRCOphth, Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK; nicky.raggeanat.ox.ac.uk
- Accepted 9 December 2004
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
Footnotes
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Ethical approval: This patient and family were part of a research study that was carried out with full ethical approval obtained from the ethics committee, Moorfields Eye Hospital, London, UK.









