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Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule
  1. A J Richards1,
  2. J Morgan2,
  3. P W P Bearcroft3,
  4. E Pickering4,
  5. M J Owen5,
  6. P Holmans6,
  7. N Williams5,
  8. C Tysoe7,
  9. F M Pope8,
  10. M P Snead9,
  11. H Hughes4,7
  1. 1Department of Pathology, University of Cambridge, Cambridge, UK
  2. 2Department of Ophthalmology, University Hospital of Wales, Cardiff, UK
  3. 3Department of Radiology, Addenbrooke's NHS Trust, Cambridge, UK
  4. 4Department of Clinical Genetics, Ysbyty Glan Clwyd, N Wales, UK
  5. 5Department of Neuropsychiatric Genetics, University of Wales College of Medicine, Cardiff, UK
  6. 6MRC Biostatistics Unit, Cambridge, UK
  7. 7Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
  8. 8Department of Dermatology, West Middlesex University Hospital, London, UK
  9. 9Vitreo Retinal Service, Addenbrooke's NHS Trust, Cambridge, UK
  1. Correspondence to:
 Dr A J Richards, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK;
 arichard{at}hgmp.mrc.ac.uk

Abstract

A large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly was linked to COL2A1, the gene encoding proα1(II) collagen. Mutational analysis of the gene by exon sequencing identified a novel mutation in the C-propeptide region of the molecule. The glycine to aspartic acid change occurred in a region that is highly conserved in all fibrillar collagen molecules. The resulting phenotype does not fit easily into pre-existing subgroups of the type II collagenopathies, which includes spondyloepiphyseal dysplasia, and the Kniest, Strudwick, and Stickler dysplasias.

  • COL2A1
  • vitreoretinopathy
  • brachydactyly
  • chondrodysplasia

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