This project involved linkage analysis of a single large pedigree with Duane Syndrome. Genotyping for a genome screen and linkage analyses have been completed, which show evidence for amajor locus predisposing to this syndrom on chromosome 2q31. Apublication presenting these results has recently beenpublished: Appukuttan B; Gillanders E; Juo SH; Freas-Lutz D; OttS; Sood R; Van Auken A; Bailey-Wilson J; Wang X; Patel RJ;Robbins CM; Chung M; Annett G; Weinberg K; Borchert MS; Trent JM;Brownstein MJ; Stout JT. A novel locus for Duane s RetractionSyndrome maps to chromosome 2q31. Am J Hum Genet 199965(6):1639-1646 - linkage analysis, Duane's syndrome, eye disease, genetics - Human Subjects

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000131-02
Application #
6290341
Study Section
Special Emphasis Panel (IDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
2
Fiscal Year
1999
Total Cost
Indirect Cost
Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Appukuttan, B; Gillanders, E; Juo, S H et al. (1999) Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet 65:1639-46