Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq

Summary Alarge Caucasian family ispresented, inwhich ajuvenile-onset formofopen-angle glaucoma istransmitted in an autosomal dominant fashion. Sixteen affected family members wereidentified from31at-risk individuals descended fromtheaffected founder. Affected patients developed highintraocular pressures(sometimes >40mm Hg)within thefirst 2decades oflife. Linkage analysis between thedisease phenotype and12microsatellite repeatmarkers located on chromosome lq gaveamaximumlod scoreof8.38 atarecombination fraction ofzero formarker D1S210. Analysis ofrecombinant haplotypes suggests a total inclusion region ofabout 14cM between markers D1S194andD1S218 atlq21-q31. This represents thesecond juvenile-glaucoma family, in which thedisease hasbeenmapped tothelong arm ofchromosome 1.