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Variation of expression of the gene for type 2 neurofibromatosis: absence of a gender effect on vestibular schwannomas, but confirmation of a preponderance of meningiomas in females

Published online by Cambridge University Press:  29 June 2007

D. G. R. Evans ,
V. Blair ,
T. Strachan ,
R. H. Lye  and
R. T. Ramsden
D. G. R. Evans*
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH
V. Blair
Affiliation:
The CRC Paediatric and Familial Cancer Research Group, Christie Hospital, Manchester M20 9BX.
T. Strachan
Affiliation:
The Division of Human Genetics, University of Newcastle-upon-Tyne
R. H. Lye
Affiliation:
The Departments of Neurosurgery, Manchester Royal Infirmary, Manchester M13 9WL, UK
R. T. Ramsden
Affiliation:
Department of Otolaryngology, Manchester Royal Infirmary, Manchester M13 9WL, UK.
*
Dr D. G. R. Evans, Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH.
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Abstract

Type 2 neurofibnormatosis is a dominantly inherited disorder in which the great majority of sufferes develop bilateral vestibular schwannomas. In a UK study of 183 individuals from 112 families we have previously shown a fairly similare disease course within families, but quite marked inter-familial variation. We have confirmed an increase in severity when the gene is inherited from an affected mother, but evidence that women are more severely affected than men is lacking. Age at onset of symptoms, of deafness and at diagnosis are idential for the entire dataset and for a comparison of 10 male/female sibling paries. Only three out of 42 pregnancies in symptomatic women were accompanied by reversible worsening in symptoms due to vistibular schwannomas. Of 328 consecutive cases of unilateral vesitibular schwannoma, there was no significant difference in the sex ratio or size. There now appears to be little evidence for a female hormonal effect on vestibular schwannomas. However, females with type 2 neurofibromatosis have significantly more meningfiomas.

Keywords

GenesNeurofibromatosis 2
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 109 , Issue 9 , September 1995 , pp. 830 - 835
Copyright
Copyright © JLO (1984) Limited 1995

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