title: Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12.
abstract: Congenital cataracts constitute a morphologically and genetically heterogeneous group of diseases that are a major cause of childhood blindness. Different loci for hereditary congenital cataracts have been mapped to chromosomes 1, 2, 16, and 17q24. We report linkage of a gene causing a unique form of autosomal dominant zonular cataracts with Y-sutural opacities to chromosome 17q11-12 in a three-generation family exhibiting a maximum lod score of 3.9 at D17S805. Multipoint analysis gave a 1-lod confidence interval of 17 cM. This interval is bounded by the markers D17S799 and D17S798, a region that would encompass a number of candidate genes including that coding for beta A3/A1-crystallin.
authors.affiliation: National Eye Institute, Bethesda, MD 20892, USA.
authors.forename: T
authors.initials: T
authors.lastname: Padma
authors.forename: R
authors.initials: R
authors.lastname: Ayyagari
authors.forename: J S
authors.initials: JS
authors.lastname: Murty
authors.forename: S
authors.initials: S
authors.lastname: Basti
authors.forename: T
authors.initials: T
authors.lastname: Fletcher
authors.forename: G N
authors.initials: GN
authors.lastname: Rao
authors.forename: M
authors.initials: M
authors.lastname: Kaiser-Kupfer
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree