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dc.contributor.authorEvans, D Gareth R
dc.contributor.authorBourn, D
dc.contributor.authorWallace, A
dc.contributor.authorRamsden, R T
dc.contributor.authorMitchell, J D
dc.contributor.authorStrachan, T
dc.date.accessioned2010-04-26T14:53:46Z
dc.date.available2010-04-26T14:53:46Z
dc.date.issued1995-06
dc.identifier.citationDiagnostic issues in a family with late onset type 2 neurofibromatosis. 1995, 32 (6):470-4 J. Med. Genet.en
dc.identifier.issn0022-2593
dc.identifier.pmid7666400
dc.identifier.urihttp://hdl.handle.net/10541/97418
dc.description.abstractWe report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mutation at the C-terminal end of the NF2 protein has been identified in this family and segregates with disease. The use of highly polymorphic markers for predictive testing is also shown. There appears to be an autosomal dominant form of spinocerebellar degeneration which is segregating separately to NF2 in this family, which created a diagnostic dilemma.
dc.language.isoenen
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshAged, 80 and over
dc.subject.meshBase Sequence
dc.subject.meshChild
dc.subject.meshDNA
dc.subject.meshFemale
dc.subject.meshHaplotypes
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMembrane Proteins
dc.subject.meshMiddle Aged
dc.subject.meshMolecular Sequence Data
dc.subject.meshMutation
dc.subject.meshNeurofibromatosis 2
dc.subject.meshNeurofibromin 2
dc.subject.meshPedigree
dc.subject.meshPolymerase Chain Reaction
dc.subject.meshPolymorphism, Single-Stranded Conformational
dc.subject.meshSpinocerebellar Degenerations
dc.titleDiagnostic issues in a family with late onset type 2 neurofibromatosis.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, St Mary's Hospital, Manchester, UK.en
dc.identifier.journalJournal of Medical Geneticsen
html.description.abstractWe report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mutation at the C-terminal end of the NF2 protein has been identified in this family and segregates with disease. The use of highly polymorphic markers for predictive testing is also shown. There appears to be an autosomal dominant form of spinocerebellar degeneration which is segregating separately to NF2 in this family, which created a diagnostic dilemma.


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