Letters to the editor
Maternal gene effect in neurofibromatosis 2: fact or artefact?
Michael E Basera, J M Friedmanb, D Gareth R Evansca J
Med
Genet 2001;38:783-784 2257 Fox Hills Drive, Los Angeles, CA 90064, USA, b Department of Medical Genetics, University of
British Columbia, Vancouver, Canada, c Department of Medical Genetics, St Mary's
Hospital, Manchester, UK
Correspondence to: Dr Baser, baser@earthlink.net
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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 al4
noted that patients with maternal inheritance had an earlier age at
onset and Evans et al5 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, Parry
et al6 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
al4 studied 38 inherited
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- A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.
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J. Med. Genet. 1992 29: 841-846.[Abstract] [PDF]
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