Molecular Identification of the Schwannomatosis Locus
Annual rept. 1 Jul 2005-30 Jun 2006
MASSACHUSETTS GENERAL HOSPITAL BOSTON
Pagination or Media Count:
Background Schwannomatosis is a recently recognized third major type of neurofibromatosis. Our preliminary studies of the NF2 gene in tumors from schwannomatosis patients reveal a pattern of tumor suppressor gene inactivation not previously reported in any other human disease. ObjectiveHypothesis 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 LOH observed in schwannomatosis tumors and the high rate of somatic NF2 mutation seen along the cis allele. Specific Aims 1. To identify and clinically characterize schwannomatosis patients and maintain a resource of tumor an blood specimens. 2. To further refine the candidate region on chromosome 22 using linkage and loss of heterozygosity analyses. 3. To determine the molecular mechanism of tumor formation in these patients using complementary molecular and cytogenetic approaches. Study Design Schwannomatosis patients and affected relatives will be identified.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research