Learn about DURS2 locus
Subsequent to this study, a 4 generation English family with fully penetrant Duane syndrome was studied, that also mapped to the DURS2 region, enabling the region to be reduced to an 8.8-cM interval on chromosome 22.
In collaboration with researchers who mapped the DURS2 locus, we are currently using a positional cloning approach to identify this gene, by utilizing DNA from families enrolled in this research study.
Please contact Caroline Andrews to obtain further information on the genetic studies that we are undertaking and if you are interested in enrolling a patient or participating yourself.
Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor, Johns Hopkins University, last edit date 12/15/99 (entry number 604356). Home page: http://www3.ncbi.nlm.nih.gov/Omim/.
- Appukuttan, B. et al. Localization of a gene for Duane retraction syndrome to chromosome 2q31. American Journal of Human Genetics 65;1639-1646 (1999).
- Evans JC, Frayling TM, Ellard S, Gutowski NJ. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. 2000 Jun;106(6):636-8.