Article: article from journal or magazin.
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
American journal of human genetics
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
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.
Adult, Age Factors, Cataract, Chromosome Mapping, Chromosomes, Human, Pair 9, Female, Genes, Recessive, Genetic Markers, Heterozygote Detection, Humans, Lod Score, Male, Middle Aged, Pedigree, Phenotype
Web of science
Last modification date