A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes.
case_series · Level IV
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Abstract
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.
Medical subject headings
- Genes, Neurofibromatosis 2
- Mutation
- Neurofibromatosis 2
- Phenotype