Diagnostic issues in a family with late onset type 2 neurofibromatosis.

doi:10.1136/jmg.32.6.470

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Article

Diagnostic issues in a family with late onset type 2 neurofibromatosis.

Journal of medical genetics - 1 Jun 1995

Evans D G, Bourn D, Wallace A, Ramsden R T, Mitchell J D, Strachan T

Abstract excerpt

We 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...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Base Sequence
Child
DNA
Female
Haplotypes
Humans
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Mutation

Neurofibromatosis 2

Neurofibromin 2

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 7666400
DOI: 10.1136/jmg.32.6.470
PMCID: PMC1050488

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7666400-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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