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Genotype-phenotype correlations for cataracts in neurofibromatosis 2
  1. M E Baser1,
  2. L Kuramoto2,
  3. H Joe2,
  4. J M Friedman3,
  5. A J Wallace4,
  6. R T Ramsden5,
  7. D G R Evans4
  1. 1Los Angeles, CA, USA
  2. 2Department of Biostatistics, University of British Columbia, Vancouver, BC, Canada
  3. 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
  4. 4Department of Medical Genetics, St Mary’s Hospital, Manchester, UK
  5. 5Department of Otolaryngology, Manchester Royal Infirmary, Manchester, UK
  1. Correspondence to:
 Dr M E Baser
 2257 Fox Hills Drive, Los Angeles, CA 90064, USA;

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Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is caused by inactivating mutations of the NF2 tumour suppressor gene.1,2 Multiple central and peripheral nervous system tumours and ocular abnormalities are common in NF2; bilateral vestibular schwannomas are pathognomonic for the disease. Genotype-phenotype correlations are well established for NF2 associated tumours. In general, constitutional nonsense or frameshift NF2 mutations are associated with severe NF2 (that is, earlier onset of symptoms and more tumours), splice site mutations with variable disease severity, and missense mutations with mild disease.

Genotype-phenotype correlations have not been reported for the non-tumour manifestations of NF2. The most common of these manifestations is presenile cataracts, which occur in about 60–80% of people with NF2.3–5 In animal models, lens fibre cells that are more differentiated express less Nf2 protein than the epithelial regions of the lens, suggesting that the Nf2 protein may play a role in lens epithelial cell migration or elongation.6 The purpose of this study was to determine if there were genotype-phenotype correlations for cataracts in NF2.


The study was based on the United Kingdom NF2 registry in the Department of Medical Genetics, St Mary’s Hospital, Manchester. NF2 patients are ascertained by contacting neurosurgeons, otolaryngologists, neurologists, paediatricians, dermatologists, and geneticists throughout the United Kingdom, augmented in the North West Region by the Regional Cancer Registry. The study was subject to continuing ethics committee evaluation and patients consented to participation. Patients were screened for constitutional NF2 mutations using single strand conformational polymorphism analysis (SSCP) as previously described,7 and examined for cataracts using slitlamp biomicroscopy at the time of diagnosis of NF2. For this study, cataracts were defined as present or absent (that is, posterior subcapsular cataracts and cortical cataracts were aggregated). There were 255 people from 190 families (159 people with new …

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