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

Abstract

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. 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. Affected family members and unaffected members underwent genetic analysis. Key family members underwent ophthalmologic testing and oculography. No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 was found in this study. 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.