Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN)

W. S. Oetting, C. M. Armstrong, A. M. Holleschau, A. T. DeWan, C. G. Summers

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Congenital motor nystagmus (CN) is a relatively common genetic disorder (approximately 1 in 1500) characterized by bilateral involuntary ocular oscillations, with onset occurring within the first six months of life. To date, three loci associated with CN have been mapped to chromosomes 6p12, Xp11.4-p11.3, and Xq26-q27. We analyzed five pedigrees segregating for CN. Mapping studies using markers in these three regions showed that only one pedigree exhibited suggestive linkage with a lod score of 2.08, θ=0.0, at chromosome Xp11. This pedigree had both affected male and female members, with two unaffected obligate female carriers. The remaining four pedigrees did not exhibit evidence of linkage for any of the three chromosome locations. Three of the pedigrees, Pedigrees 2, 4, and 5, exhibited several instances of male-to-male transmission, excluding X-linkage, and exhibited a lod score of -3.82, θ=0.0, for marker D6S459 located at 6p12, thus excluding the chromosome 6 locus. This provides evidence for at least a fourth locus associated with CN.

Original languageEnglish (US)
Pages (from-to)227-233
Number of pages7
JournalOphthalmic Genetics
Volume21
Issue number4
DOIs
StatePublished - 2000

Bibliographical note

Funding Information:
Correspondence and reprint requests to: William S. Oetting, Ph.D. Department of Medicine Mayo Mail Code 485 420 Delaware St. S.E. University of Minnesota Minneapolis, MN 55455 USA Tel: (612) 624-1139 e-mail: bill@lenti.med.umn.edu Acknowledgements: The authors would like to thank the families for their participation in this study. This study was supported by a grant from the Minnesota Medical Foundation (1040-97) and an unrestricted grant from Research to Prevent Blindness, New York, NY.

Keywords

  • Congenital nystagmus
  • Heterogeneity
  • Linkage
  • X-linkage

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