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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Rozet, J. M. Gerber, S. Perrault, I. Cabot, A. Munnich, A. Kaplan, J. Smahi, A. Ducroq, D. Souied, E. |
| Description | Country affiliation: France Author Affiliation: Cabot A ( Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et de la Recherche Médicale U393, Hôpital des Enfants Malades, Paris, France.) |
| Abstract | Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500 live births) characterized by bilateral uncontrollable ocular oscillations, with onset typically at birth or within the first few months of life. This condition is regarded as idiopathic, after exclusion of nervous and ocular diseases. X-linked, autosomal dominant, and autosomal recessive modes of inheritance have been reported, but X-linked inheritance is probably the most common. In this article, we report the mapping of a gene for X-linked dominant CN (NYS1) to the short arm of chromosome X, by showing close linkage of NYS1 to polymorphic markers on chromosome Xp11.4-p11.3 (maximum LOD score of 3.20, over locus DXS993). Because no candidate gene, by virtue of its function, has been found in this region of chromosome Xp, further studies are required, to reduce the genetic interval encompassing the NYS1 gene. It is hoped that the complete gene characterization will address the complex pathophysiology of CN. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 4 |
| Volume Number | 64 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1999-04-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Genetic Linkage Nystagmus, Congenital Genetics X Chromosome Chromosome Mapping Dosage Compensation, Genetic Genes, Dominant Genetic Markers Haplotypes Likelihood Functions Pedigree Polymorphism, Genetic Recombination, Genetic Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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