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Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation
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  1. N K Ragge1,2,
  2. A Salt1,3,
  3. J R O Collin1,
  4. A Michalski3,
  5. P A Farndon4
  1. 1Adnexal Service, Moorfields Eye Hospital, London, UK
  2. 2Department of Human Anatomy and Genetics, University of Oxford, Oxford, and Department of Ophthalmology, Birmingham Children’s Hospital, Birmingham, UK
  3. 3Great Ormond Street Hospital for Children, London, UK
  4. 4Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, UK
  1. 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

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
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Footnotes

  • 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.

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