Analysis of Phenotypical Variability in Neurfibromatosis (NFL1)
Abstract
This project is designed to characterise the sources of phenotypic variability in neurofibromatosis 1 (NF1) by a combination of clinical, statistical, epidemiological, and molecular genetic methods. During the second year of the project, we analysed associations found in clinical and genetic data from the NNFF International Database with logistic regression, multivariate probit models, generalized estimating equations, and multivariate normal models. These sophisticated techniques allowed us to adjust for the complex and pervasive effect of age and other covariates that confounded previous studies. We showed that certain clinical features of NF1 cluster in particular patients and within affected families. We also began our analysis of NF1 allele-phenotype associations and used the large deletion phenotype in a proof of principle for the method developed for this project. Our results demonstrate the importance of genetic factors in determining not only whether an individual will have NF1 but also what clinical features of the disease will develop.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 1999
- Accession Number
- ADA385950
Entities
People
- Jan Friedman
Organizations
- University of British Columbia