A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN).
Congenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance have been reported. Linkage analysis has suggested the existence of at least three distinct loci for both autosomal dominant and X-linked forms, although only one disease gene has been identified (FRMD7, Xq26.2). The pathophysiological mechanisms underlying nystagmus are poorly understood but it is anticipated that characterization of the FRMD7 gene and identification of novel nystagmus genes will provide insights into this condition and the functioning and development of the visual pathways in general.
Self
James
J
Clinical Neurosciences Division, University of Southampton, Southampton, United Kingdom. jes3@soton.ac.uk
Lotery
Andrew
A
D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree