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.
Kato
Zenichiro
Z
Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, 501-1193 Gifu, Japan. zen-k@gifu-u.ac.jp
Yamagishi
Atsushi
A
Kondo
Naomi
N
D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003937:Diagnosis, Differential; D004370:Duane Retraction Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005801:Genes, Homeobox / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D014157:Transcription Factors / Q000235:genetics*
C084058:HLX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors