Molecular Identification of the Schwannomatosis Locus
Abstract
Schwannomatosis is a recently recognized third major type of neurofibromatosis. Our preliminary studies of the N gene in tumors from schwannomatosis patients reveal a pattern of tumor suppressor gene inactivation not previously reported in at other human disease. The objective of this project is to clone the locus responsible for familial schwannomatosis. We are exploring two competing hypotheses which address both the non random distribution of LOHI observe schwannomatosis tumors and the high rate of somatic NF2 mutation seen along the cis allele. To identify and clinically characterize schwannomatosis patients, and maintain a resource of tumor and blood specimens. To further refine the candidate region on chromosome 22 using linkage and loss of heterozygosity analyses. To determine the molecular mechanism of tumor formation in these patients using complementary molecular and cytogen approaches. Schwannomatosis patients and affected relatives will be identified. Blood and tumor specimens will be obtained I linkage, LOH, FISH and mutational analysis of coding and non coding candidate regions. This study will elucidate unique pathogenesis of schwannomatosis and provide a means for definitive diagnosis using molecular technology.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 2005
- Accession Number
- ADA444271
Entities
People
- Mia M. Maccollin
Organizations
- Massachusetts General Hospital