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.

2.50
Hdl Handle:
http://hdl.handle.net/10541/98856
Title:
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.
Authors:
Evans, D Gareth R; Blair, Val; Strachan, T; Lye, R H; Ramsden, R T
Abstract:
Type 2 neurofibromatosis is a dominantly inherited disorder in which the great majority of sufferers develop bilateral vestibular schwannomas. In a UK study of 183 individuals from 112 families we have previously shown a fairly similar 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 identical for the entire dataset and for a comparison of 10 male/female sibling pairs. Only three out of 42 pregnancies in symptomatic women were accompanied by a reversible worsening in symptoms due to vestibular schwannomas. Of 328 consecutive cases of unilateral vestibular 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 meningiomas.
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
Citation:
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. 1995, 109 (9):830-5 J Laryngol Otol
Journal:
The Journal of Laryngology and Otology
Issue Date:
Sep-1995
URI:
http://hdl.handle.net/10541/98856
DOI:
10.1017/S0022215100131445
PubMed ID:
7494114
Type:
Article
Language:
en
ISSN:
0022-2151
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorEvans, D Gareth Ren
dc.contributor.authorBlair, Valen
dc.contributor.authorStrachan, Ten
dc.contributor.authorLye, R Hen
dc.contributor.authorRamsden, R Ten
dc.date.accessioned2010-05-14T15:21:33Z-
dc.date.available2010-05-14T15:21:33Z-
dc.date.issued1995-09-
dc.identifier.citationVariation 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. 1995, 109 (9):830-5 J Laryngol Otolen
dc.identifier.issn0022-2151-
dc.identifier.pmid7494114-
dc.identifier.doi10.1017/S0022215100131445-
dc.identifier.urihttp://hdl.handle.net/10541/98856-
dc.description.abstractType 2 neurofibromatosis is a dominantly inherited disorder in which the great majority of sufferers develop bilateral vestibular schwannomas. In a UK study of 183 individuals from 112 families we have previously shown a fairly similar 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 identical for the entire dataset and for a comparison of 10 male/female sibling pairs. Only three out of 42 pregnancies in symptomatic women were accompanied by a reversible worsening in symptoms due to vestibular schwannomas. Of 328 consecutive cases of unilateral vestibular 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 meningiomas.en
dc.language.isoenen
dc.subjectMeningeal Canceren
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshAge Factors-
dc.subject.meshChild-
dc.subject.meshDeafness-
dc.subject.meshFemale-
dc.subject.meshGene Expression Regulation, Neoplastic-
dc.subject.meshGenes, Neurofibromatosis 2-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMeningeal Neoplasms-
dc.subject.meshMeningioma-
dc.subject.meshMiddle Aged-
dc.subject.meshNeurofibromatosis 2-
dc.subject.meshNeuroma, Acoustic-
dc.subject.meshPregnancy-
dc.subject.meshSex Factors-
dc.titleVariation 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.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, St Mary's Hospital, Manchester, UK.en
dc.identifier.journalThe Journal of Laryngology and Otologyen

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