Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family

Am J Ophthalmol. 2004 Sep;138(3):439-43. doi: 10.1016/j.ajo.2004.04.065.


Purpose: Congenital nystagmus (CN) is an eye-movement disorder that usually starts within the first months of life. Autosomal dominant, autosomal recessive, and X-chromosomal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease-relevant genes for autosomal dominant CN (AD CN). AD CN cosegregated with a balanced translocation of 7;15 in a family. In a large black pedigree linkage was demonstrated to 6p12.

Design: In this study, we describe a large German family with AD congenital nystagmus. Linkage of AD in this family was tested with previously implicated loci.

Methods: Affected family members and unaffected members underwent genetic analysis. Key family members underwent ophthalmologic testing and oculography.

Results: No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 was found in this study.

Conclusion: In the presented pedigree genes on 15q11, and on the assumption of full penetrance, 6p12 and 7p11 are not involved in the development of AD congenital nystagmus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • DNA / analysis
  • Electrooculography
  • Female
  • Genes, Dominant
  • Genetic Linkage*
  • Genetic Markers
  • Germany / epidemiology
  • Haplotypes
  • Humans
  • Male
  • Nystagmus, Congenital / diagnosis
  • Nystagmus, Congenital / epidemiology
  • Nystagmus, Congenital / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Visual Acuity


  • Genetic Markers
  • DNA