A gene for autosomal dominant congenital nystagmus localizes to 6p12.
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 theta = 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.
Kerrison
J B
JB
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Maumenee 517, Baltimore, Maryland, 21287-9237, USA.
Arnould
V J
VJ
Barmada
M M
MM
Koenekoop
R K
RK
Schmeckpeper
B J
BJ
Maumenee
I H
IH
D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D014178:Translocation, Genetic; D014960:X Chromosome
D005819:Genetic Markers