Accession Number:

ADB270818

Title:

Genotype Phenotype Relationships in Neurofibromatosis 2

Descriptive Note:

Annual rept. 30 Sep 1999-29 Sep 2000

Corporate Author:

GENERAL HOSPITAL CORP BOSTON MA

Personal Author(s):

Report Date:

2000-10-01

Pagination or Media Count:

31.0

Abstract:

Neurofibromatosis 2 is a genetic disorder characterized by the development of benign nervous system tumors which shows great phenotypic homogeneity within families. The hypothesis of this study is that there is a correlation between the highly variable phenotype of NF 2 and the causative genotype. Progress over the last 3 years has included 1 development of a database, and clinical consortium 2 definition of pediatric and spinal cord phenotypic subtypes 3 validation of exon scanning methods and development of alternative mutation detection methods 4 documentation of the effect of parental origin on severity and 5 exploration of allelic imbalance as a rapid diagnostic tool.

Subject Categories:

  • Genetic Engineering and Molecular Biology
  • Medicine and Medical Research

Distribution Statement:

APPROVED FOR PUBLIC RELEASE