TY - JOUR
T1 - A gene for autosomal dominant congenital nystagmus localizes to 6p12
AU - Kerrison, John B.
AU - Arnould, Véronique J.
AU - Barmada, M. Michael
AU - Koenekoop, Robert K.
AU - Schmeckpeper, Barbara J.
AU - Maumenee, Irene H.
N1 - Funding Information:
We appreciate the cooperation and assistance of all family members involved with this study. We thank A. Jedlicka and T. Mitchell for technical assistance together with K. Klima and Denise Brandon for help in obtaining blood specimens. V.J.A. is supported by the Belgian American Educational Foundation, the Rotary Foundation, and the Vocational Foundation of Belgium. R.K.K. is supported by the Canadian National Institute for the Blind. This study was supported in part by a grant from Research to Prevent Blindness Inc., NY, NIH National Eye Institute Grant EY0176, and the Krieble and Walter Edel Funds of the Johns Hopkins Center for Hereditary Eye Diseases.
PY - 1996/5/1
Y1 - 1996/5/1
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1996.0229
DO - 10.1006/geno.1996.0229
M3 - Article
C2 - 8661013
AN - SCOPUS:0030001442
SN - 0888-7543
VL - 33
SP - 523
EP - 526
JO - Genomics
JF - Genomics
IS - 3
ER -