Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

ABSTRACT: Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by tumors on the vestibular branch of the VIII cranial nerve, but other types of nervous system tumors usually occur as well. Genotype-phenotype correlations are well documented for overall NF2 disease severity but have not been definitively evaluated for specific types of non-VIII nerve tumors. We evaluated genotype-phenotype correlations for various types of non-VIII nerve tumors in 406 patients from the population-based United Kingdom NF2 registry, using regression models with the additional covariates of current age and type of treatment center (specialty or nonspecialty). The models also permitted consideration of intrafamilial correlation. We found statistically significant genotype-phenotype correlation

SUBMITTER: Baser ME 

PROVIDER: S-EPMC1216057 | biostudies-literature | 2004 Aug

REPOSITORIES: biostudies-literature