A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

• Published in: Genomics (San Diego, Calif.) Vol. 33; no. 3; pp. 523 - 526
• Main Authors: Kerrison, John B., Arnould, Véronique J., Barmada, M.Michael, Koenekoop, Robert K., Schmeckpeper, Barbara J., Maumenee, Irene H.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01-05-1996; Elsevier
• Subjects: Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 6; Chromosomes, Human, Pair 7; Female; Genes, Dominant; Genes, Recessive; Genetic Linkage; Genetic Markers; Haplotypes; Humans; Infant; Infant, Newborn; Male; Medical sciences; Nystagmus, Pathologic - genetics; Nystagmus, Pathologic - physiopathology; Oculomotor disorders; Ophthalmology; Pedigree; Translocation, Genetic; X Chromosome; Genetic mapping; Human; Eye disease; Linkage; Genetic marker; Nystagmus; Genetics; Chromosome C6; Oculomotor syndrome; Congenital disease; Genetic disease
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1996.0229

Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased due to slippage of images across the fovea. As such, visual acuity correlates with nystagmus intensity, which is the amplitude and frequency of eye movements at a given position of gaze. X-linked, autosomal dominant, and autosomal recessive pedigrees have been described, but no mapping studies have been published. We recently described a large pedigree with autosomal dominant congenital nystagmus. A genome-wide search resulted in six markers on 6p linked by two-point analysis at θ = 0 (D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430). Haplotype analysis localizes the gene for autosomal dominant congenital motor nystagmus to an 18-cM region between D6S271 and D6S455.