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Maternal gene effect in neurofibromatosis 2: fact or artefact?
  1. Michael E Basera,
  2. J M Friedmanb,
  3. D Gareth R Evansc
  1. a J Med Genet 2001; 38 :783–784 2257 Fox Hills Drive, Los Angeles, CA 90064, USA, bDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada, cDepartment of Medical Genetics, St Mary's Hospital, Manchester, UK
  1. Dr Baser, baser{at}

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Editor—Neurofibromatosis 2 (NF2) is a rare autosomal dominant disease that is characterised by benign nervous system tumours, skin lesions, and ocular abnormalities.1-3 Two studies have found that NF2 patients with a family history of the disease and with maternal inheritance have more severe disease than inherited cases with paternal inheritance. Kanter et al 4noted that patients with maternal inheritance had an earlier age at onset and Evans et al 5 found that patients with maternal inheritance had both an earlier age at onset and an earlier age at death. In both studies, the mean age at onset was 18 years with maternal inheritance and 24 years with paternal inheritance.

These results require confirmation for several reasons. First, Parryet al 6 found identical mean ages at onset (22.8 years) in symptomatic NF2 patients with paternal or maternal inheritance. Second, these studies were based on relatively small numbers of patients. Kanter et al 4 studied 38 inherited cases, Evanset al 5 studied 56 inherited cases, and Parry et al 6 studied 36 inherited cases; 66% …

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