Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1999 Apr;64(4):1141–1146. doi: 10.1086/302324

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

A Cabot 1, J M Rozet 1, S Gerber 1, I Perrault 1, D Ducroq 1, A Smahi 1, E Souied 1, A Munnich 1, J Kaplan 1
PMCID: PMC1377838  PMID: 10090899

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.

Full Text

The Full Text of this article is available as a PDF (302.0 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Adachi M., Torii J., Volk B. W., Briet P., Wolintz A., Schneck L. Electron microscopic and enzyme histochemical studies of cerebellum, ocular and skeletal muscles in chronic progressive ophthalmoplegia with cerebellar ataxia. Acta Neuropathol. 1973;23(4):300–312. doi: 10.1007/BF00687459. [DOI] [PubMed] [Google Scholar]
  2. Allen R. C., Zoghbi H. Y., Moseley A. B., Rosenblatt H. M., Belmont J. W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992 Dec;51(6):1229–1239. [PMC free article] [PubMed] [Google Scholar]
  3. Apkarian P., Shallo-Hoffmann J. VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. Invest Ophthalmol Vis Sci. 1991 Aug;32(9):2653–2661. [PubMed] [Google Scholar]
  4. Cogan D. G. Congenital nystagmus. Can J Ophthalmol. 1967 Jan;2(1):4–10. [PubMed] [Google Scholar]
  5. Dell'Osso L. F., Flynn J. T., Daroff R. B. Hereditary congenital nystagmus. An intrafamilial study. Arch Ophthalmol. 1974 Nov;92(5):366–374. doi: 10.1001/archopht.1974.01010010378002. [DOI] [PubMed] [Google Scholar]
  6. Dell'Osso L. F., Weissman B. M., Leigh R. J., Abel L. A., Sheth N. V. Hereditary congenital nystagmus and gaze-holding failure: the role of the neural integrator. Neurology. 1993 Sep;43(9):1741–1749. doi: 10.1212/wnl.43.9.1741. [DOI] [PubMed] [Google Scholar]
  7. Dell'Osso L. F., van der Steen J., Steinman R. M., Collewijn H. Foveation dynamics in congenital nystagmus. I: Fixation. Doc Ophthalmol. 1992;79(1):1–23. doi: 10.1007/BF00160130. [DOI] [PubMed] [Google Scholar]
  8. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  9. FORSSMAN B. A STUDY OF CONGENITAL NYSTAGMUS. Acta Otolaryngol. 1964 May;57:427–449. doi: 10.3109/00016486409137104. [DOI] [PubMed] [Google Scholar]
  10. Fielder A. R., Evans N. M. Is the geniculostriate system a prerequisite for nystagmus? Eye (Lond) 1988;2(Pt 6):628–635. doi: 10.1038/eye.1988.116. [DOI] [PubMed] [Google Scholar]
  11. Forssman B., Ringnér B. Prevalence and inheritance of congenital nystagmus in a Swedish population. Ann Hum Genet. 1971 Oct;35(2):139–147. [PubMed] [Google Scholar]
  12. Gelbart S. S., Hoyt C. S. Congenital nystagmus: a clinical perspective in infancy. Graefes Arch Clin Exp Ophthalmol. 1988;226(2):178–180. doi: 10.1007/BF02173313. [DOI] [PubMed] [Google Scholar]
  13. Hameb L. M. Congenital nystagmus: fine structure of human extraocular muscles. Surv Ophthalmol. 1995 Nov-Dec;40(3):250–251. doi: 10.1016/s0039-6257(95)80037-9. [DOI] [PubMed] [Google Scholar]
  14. Harcourt B. Hereditary nystagmus in early childhood. J Med Genet. 1970 Sep;7(3):253–256. doi: 10.1136/jmg.7.3.253. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Jouet M., Rosenthal A., Armstrong G., MacFarlane J., Stevenson R., Paterson J., Metzenberg A., Ionasescu V., Temple K., Kenwrick S. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402–407. doi: 10.1038/ng0794-402. [DOI] [PubMed] [Google Scholar]
  16. Kerrison J. B., Arnould V. J., Barmada M. M., Koenekoop R. K., Schmeckpeper B. J., Maumenee I. H. A gene for autosomal dominant congenital nystagmus localizes to 6p12. Genomics. 1996 May 1;33(3):523–526. doi: 10.1006/geno.1996.0229. [DOI] [PubMed] [Google Scholar]
  17. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed] [Google Scholar]
  18. Mencucci R., Domenici-Lombardo L., Cortesini L., Faussone-Pellegrini M. S., Salvi G. Congenital nystagmus: fine structure of human extraocular muscles. Ophthalmologica. 1995;209(1):1–6. doi: 10.1159/000310564. [DOI] [PubMed] [Google Scholar]
  19. Peng G. H., Zhang C., Yang J. C. Ultrastructural study of extraocular muscle in congenital nystagmus. Ophthalmologica. 1998;212(1):1–4. doi: 10.1159/000027249. [DOI] [PubMed] [Google Scholar]
  20. Pepin B., Mikol J., Goldstein B., Aron J. J., Lebuisson D. A. Familial mitochondrial myopathy with cataract. J Neurol Sci. 1980 Mar;45(2-3):191–203. doi: 10.1016/0022-510x(80)90165-3. [DOI] [PubMed] [Google Scholar]
  21. Wybar K. Significance of nystagmus in suspected blindness in infancy. Isr J Med Sci. 1972 Aug-Sep;8(8):1492–1495. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES