Genotype Phenotype Relationships in NF2
Abstract
Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of bilateral vestibular schwannoma and other nervous system tumors. Both NF2 and neurofibromatosis 1 (NF1) show great clinical variability between individuals with regards to tumor burden, severity of disease and age of onset and death. Despite this overall heterogeneity and unlike NF1, NF2 shows remarkable homogeneity within families, suggesting an effect of the underlying mutation on the resultant phenotype. The hypothesis of this study is that there is a correlation between the highly variable phenotype of neurofibromatosis 2 and the causative genotype. Progress over the last year has included: 1) Substantial revision of the NF2 database and expansion of the consortium to other centers participating in Army funded NF research; 2) Phenotypic analysis of the pediatric subset of subjects entered in the database; 3) Development of alternative methodologies for mutational analysis of the NF2 gene: and 4) Analysis of the extent to which unequal expression of mutant NF2 alleles may limit RNA based analysis of NF2 patients.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 1998
- Accession Number
- ADA361717
Entities
People
- Mia M. Maccollin
Organizations
- Massachusetts General Hospital