A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes.
We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes. This mutation was previously reported in an unrelated family in which all affected individuals had mild phenotypes. These data demonstrate a lack of correlation between NF2 genotype and NF2 phenotype for this mutation.
Scoles
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DR
Neurogenetics Laboratory, Burns and Allen Research Institute, Cedars-Sinai Medical Center, UCLA School of Medicine 90048, USA.
Baser
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Pulst
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D000328:Adult; D000368:Aged; D002874:Chromosome Mapping; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016518:Neurofibromatosis 2 / Q000235:genetics*; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational