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Title: A gene for autosomal dominant congenital nystagmus localizes to 6p12

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 {theta} = 0 (D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430). Haplotype analysis localizes the gene for autosomal dominant congenital motor mystagmus to an 18-cM region between D6S271 and D6S455. 16 refs., 1 fig., 1 tab.

Authors:
; ;  [1]
  1. Johns Hopkins Hospital, Baltimore, MD (United States) [and others
Publication Date:
OSTI Identifier:
466670
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; Journal Volume: 33; Journal Issue: 3; Other Information: PBD: 1 May 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 6; GENETIC MAPPING; G CODES; BLACK AMERICANS; HEREDITARY DISEASES; SENSE ORGANS DISEASES; GENETICS; DIAGNOSIS; GENES; DNA SEQUENCING; BIOLOGICAL MARKERS; DOMINANT MUTATIONS; STATISTICS

Citation Formats

Kerrison, J.B., Arnould, V.J., and Koenekoop, R.K. A gene for autosomal dominant congenital nystagmus localizes to 6p12. United States: N. p., 1996. Web. doi:10.1006/geno.1996.0229.
Kerrison, J.B., Arnould, V.J., & Koenekoop, R.K. A gene for autosomal dominant congenital nystagmus localizes to 6p12. United States. doi:10.1006/geno.1996.0229.
Kerrison, J.B., Arnould, V.J., and Koenekoop, R.K. Wed . "A gene for autosomal dominant congenital nystagmus localizes to 6p12". United States. doi:10.1006/geno.1996.0229.
@article{osti_466670,
title = {A gene for autosomal dominant congenital nystagmus localizes to 6p12},
author = {Kerrison, J.B. and Arnould, V.J. and Koenekoop, R.K.},
abstractNote = {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 mystagmus to an 18-cM region between D6S271 and D6S455. 16 refs., 1 fig., 1 tab.},
doi = {10.1006/geno.1996.0229},
journal = {Genomics},
number = 3,
volume = 33,
place = {United States},
year = {Wed May 01 00:00:00 EDT 1996},
month = {Wed May 01 00:00:00 EDT 1996}
}
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