title: A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
abstract: Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been clearly documented and is probably underrecognized. We studied a large family-from a relatively isolated geographic region-whose members were affected by autosomal recessive adult-onset pulverulent cataracts. We mapped the disease locus to a 14-cM interval at a novel disease locus, 9q13-q22 (between markers D9S1123 and D9S257), with a LOD score of 4.7. The study of this progressive and age-related cataract phenotype may provide insight into the cause of the more common sporadic form of age-related cataracts.
authors.affiliation: Vision Science Research Program, The Toronto Western Hospital (UHN), Toronto, Ontario, M5T 2S8, Canada. eheon@uhnres.utoronto.ca
authors.forename: E
authors.initials: E
authors.lastname: Héon
authors.forename: A D
authors.initials: AD
authors.lastname: Paterson
authors.forename: M
authors.initials: M
authors.lastname: Fraser
authors.forename: G
authors.initials: G
authors.lastname: Billingsley
authors.forename: M
authors.initials: M
authors.lastname: Priston
authors.forename: A
authors.initials: A
authors.lastname: Balmer
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: A
authors.initials: A
authors.lastname: Verner
authors.forename: T J
authors.initials: TJ
authors.lastname: Hudson
authors.forename: F L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D000328:Adult; D000367:Age Factors; D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype
chemical_list: D005819:Genetic Markers