DIAGNOSTIC ISSUES IN A FAMILY WITH LATE-ONSET TYPE-2 NEUROFIBROMATOSIS

被引:23
|
作者
EVANS, DGR
BOURN, D
WALLACE, A
RAMSDEN, RT
MITCHELL, JD
STRACHAN, T
机构
[1] CHRISTIE HOSP,PATERSON INST CANC RES,CRC,DEPT CANC GENET,MANCHESTER,LANCS,ENGLAND
[2] ROYAL PRESTON HOSP,DEPT NEUROL,PRESTON PR2 4HT,LANCS,ENGLAND
[3] MANCHESTER ROYAL INFIRM,DEPT OTOLARYNGOL,MANCHESTER M13 9WL,LANCS,ENGLAND
关键词
D O I
10.1136/jmg.32.6.470
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 63, 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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收藏
页码:470 / 474
页数:5
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