A gene for autosomal dominant congenital nystagmus localizes to 6p12.
Genomics
; 33(3): 523-6, 1996 May 01.
Article
em En
| MEDLINE
| ID: mdl-8661013
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 nystagmus to an 18-cM region between D6S271 and D6S455.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Cromossomos Humanos Par 6
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Nistagmo Patológico
/
Genes Dominantes
Limite:
Female
/
Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article