RT Journal Article
SR Electronic
T1 Diagnostic issues in a family with late onset type 2 neurofibromatosis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 470
OP 474
DO 10.1136/jmg.32.6.470
VO 32
IS 6
A1 Evans, D G
A1 Bourn, D
A1 Wallace, A
A1 Ramsden, R T
A1 Mitchell, J D
A1 Strachan, T
YR 1995
UL http://jmg.bmj.com/content/32/6/470.abstract
AB 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 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.