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Exclusion of candidate genetic loci for Duane retraction syndrome
1Division of Ophthalmology, Children's Hospital Los Angeles, University of Southern California School of Medicine, 90064, USA. sott@chla.usc.edu
Purpose:
To report preliminary linkage analysis of a large Hispanic family showing autosomal dominant inheritance for Duane retraction syndrome.
Methods:
Microsatellite analysis was used to examine genomic DNA isolated from members of a large family with autosomal dominant Duane retraction syndrome for linkage to candidate loci for Duane retraction syndrome. Chromosomes 4, 8, and 22 were chosen for study because previous reports had documented karyotypic abnormalities in unrelated patients with Duane retraction syndrome.
Results:
No lod scores over 0.5 were found for markers on chromosomes 4, 8, or 22. This analysis excludes these candidate sites.
Conclusions:
Studies do not support linkage between Duane retraction syndrome in this family and chromosomes 4, 8, and 22. Duane retraction syndrome may result from mutations in a heterogeneous group of genes.