A GENE FOR AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS LOCALIZES TO 6P12

Citation
Jb. Kerrison et al., A GENE FOR AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS LOCALIZES TO 6P12, Genomics, 33(3), 1996, pp. 523-526
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
08887543
Volume
33
Issue
3
Year of publication
1996
Pages
523 - 526
Database
ISI
SICI code
0888-7543(1996)33:3<523:AGFACN>2.0.ZU;2-X
Abstract
Congenital nystagmus is an idiopathic disorder characterized by bilate ral ocular oscillations usually manifest during infancy. Vision is typ ically decreased due to slippage of images across the fovea. As such, visual acuity correlates with nystagmus intensity, which is the amplit ude and frequency of eye movements at a given position of gaze, X-link ed, autosomal dominant, and autosomal recessive pedigrees have been de scribed, but no mapping studies have been published, We recently descr ibed a large pedigree with autosomal dominant congenital nystagmus. A genome-wide search resulted in six markers on 6p linked by two-point a nalysis at theta = 0 (D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430). Haplotype analysis localizes the gene for autosomal dominant congenita l motor nystagmus to an 18-cM region between D6S271 and D6S455. (C) 19 96 Academic Press, Inc.