title: Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel.
abstract: Glaucoma is a group of ocular disorders leading to reduced visual capabilities and sometimes blindness. The biochemical defect is unknown but it is shown that reduced drainage of the aqueous humour from the anterior chamber may lead to increased intraocular pressure and gradual atrophy of the optic neurons. Families with various forms of autosomal dominant (AD) glaucoma have been linked to 1q21-31, 2cen-q13, 4q25-27, and 13q14 and autosomal recessive congenital glaucoma have been localized to chromosome 1p36 and 2p21. Recently, a locus for AD iridogoniodysgenesis anomaly (IGDA) was mapped to chromosome 6p25. This study refines the localization of IGDA to an approximately 6-cM interval between D6S1600 and D6S1617/D6S1713 at 6p25-tel, based on recombinations in affected individuals with AD juvenile-onset glaucoma and concomitant iridogoniodysgenesis.
authors.affiliation: Department of Clinical Genetics, University Children's Hospital, Uppsala, Sweden. caroline.graff@klingen.uu.se
authors.forename: C
authors.initials: C
authors.lastname: Graff
authors.forename: T
authors.initials: T
authors.lastname: Jerndal
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D017668:Age of Onset; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D005901:Glaucoma / Q000150:complications / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D013548:Sweden; D016615:Telomere