Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome

Duane retraction syndrome is a congenital eye movement disorder characterized by failure of the sixth cranial nerve or nucleus to develop properly, resulting in restriction of abduction, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction and/or restricted adduction. The gene loci of Duane syndrome have been mapped on 8q and 2q, indicating a heterogeneity. We report here a patient with interstitial deletion of 1q with Duane syndrome. The karyotype of our patient suggests another possible locus of the Duane syndrome, and the mapped genes around the deleted region, 1q42.13-43, contain possible candidate genes such as a homeobox gene. However, further clinical descriptions of patients with Duane syndrome and genetic investigations of the deleted regions are needed for a more accurate delineation.