Research Lab

Engle Laboratory

Learn about DURS2 locus

The is a region of DNA on the q arm of Chromosome 2 (2q31) for which researchers have mapped a disease gene for isolated Duane syndrome1. This region was identified following undertaking a genome wide screen on the DNA of a large Mexican family (consisting of 118 members), spanning 4 generations, with fully penetrant autosomal dominant Duane syndrome. All 24 affected family members had limited abduction, with narrowing of the palpebral fissure and retraction of the globe on adduction. In addition, some family members had limited adduction and some members had amblyopia and the majority had vertical as well as horizontal movement abnomalities.

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.

References

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/.

  1. Appukuttan, B. et al. Localization of a gene for Duane retraction syndrome to chromosome 2q31. American Journal of Human Genetics 65;1639-1646 (1999).
  2. 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.