Autoomal dominant congenital nytagmu i not linked to 6p12, 7p11, and 15q11 in a German family

Purpoe Congenital nytagmu (CN) i an eye-movement diorder that uually tart within the firt month of life. Autoomal dominant, autoomal receive, and X-chromoomal pedigree pattern are oberved. Cauative gene are yet unknown. everal loci were implicated to contain dieae-relevant gene for autoomal dominant CN (AD CN). AD CN coegregated with a balanced tranlocation of 7;15 in a family. In a large black pedigree linkage wa demontrated to 6p12. Deign In thi tudy, we decribe a large German family with AD congenital nytagmu. Linkage of AD in thi family wa teted with previouly implicated loci. Method Affected family member and unaffected member underwent genetic analyi. Key family member underwent ophthalmologic teting and oculography. Reult No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 wa found in thi tudy. Concluion In the preented pedigree gene on 15q11, and on the aumption of full penetrance, 6p12 and 7p11 are not involved in the development of AD congenital nytagmu.