常染色体显性先天性眼球震颤与6p12、7p11和15q11无连锁关系:一个德国家族的病例报道

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

Purpose Congenital nystagmus (CN) is an eye movement disorder that usually st arts within the first months of life. Autosomal dominant, autosomal recessive, a nd X chromo somal 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 stu dy, we describe a large German family with AD congenital nystagmus. Linkage of A D in this family was tested with previously implicated loci. Methods Affected fa mily members and unaffected members underwent genetic analysis. Key family membe rs 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. Co nclusion 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.