The aim of this study is to determine if allele specific gene expression (skewing away from expected 50:50 ratio) contributes to phenotypic variability in neurofibromatosis type 1. We are studying familial cases where all affected individuals have the same mutation, and relate phenotypic severity (clinical score) to blood measure of allelic skewing of the corresponding NF1 gene (mutant:wild-type allele ratio). We are recruiting multiplex families with NF1 into this study.

Contact information:  Vinodh Narayanan, MD (602-406-3129; Vinodh.Narayanan at chw.edu)) or Garilyn Jentarra, PhD. (602-406-3130;Garilyn.Jentarra at chw.edu)

This study has been approved by the St. Joseph's Hospital and Medical Center IRB (Protocol No. 10BN037).