Hereditary benign intraepithelial dyskeratosis (HBID) is an autosomal dominant cell proliferation disorder characterized by opaque epithelial plaques on the optical conjunctiva and oral mucosa. Plaques appear at birth or in early childhood, recur throughout life, and can obstruct vision. The characteristic red eye appearance leads to many difficulties in social interactions and employment because affected individuals are often presumed to be under the influence of drugs. The gene for this disorder has been linked to chromosome 4q35, and a near-telomeric DNA duplication discovered in this region is the most likely cause of the disease. We propose to investigate the role the DNA duplication plays in HBID by performing a detailed molecular analysis of the duplicated region and candidate genes. Conjunctival tissue from normal individuals and biopsied lesion material from HBID patients will be collected for gene expression analysis. A limited number of extremely promising candidate genes will be transfected into an established cell culture system to test candidate genes on their ability form foci, which is consistent with the HBID phenotype.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
5F32EY015374-02
Application #
6835620
Study Section
Special Emphasis Panel (ZRG1-F08 (20))
Program Officer
Chin, Hemin R
Project Start
2003-12-01
Project End
2005-08-31
Budget Start
2004-12-01
Budget End
2005-08-31
Support Year
2
Fiscal Year
2005
Total Cost
$37,847
Indirect Cost
Name
Duke University
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705