A gene for autosomal dominant congenital nystagmus localizes to 6p12

John B. Kerrison, Véronique J. Arnould, M. Michael Barmada, Robert K. Koenekoop, Barbara J. Schmeckpeper, Irene H. Maumenee

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)523-526
Number of pages4
JournalGenomics
Volume33
Issue number3
DOIs
StatePublished - May 1 1996

ASJC Scopus subject areas

  • Genetics

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