title: Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.
abstract: Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CCV) is an autosomal dominant eye disease. The disease is characterized by a progressive, central and zonular cataract, with opacities both in the embryonic, fetal and juvenile nucleus and around the anterior and posterior Y-suture. We examined blood samples from 91 members of a Danish pedigree comprising 426 members, by using highly informative short tandem repeat polymorphisms and found the closest linkage of the disease gene (CCV) to a (CA)n dinucleotide repeat polymorphism at locus D1S243 (Zmax = 14.04 at theta M = 0.025 theta F = 0.000), at a penetrance of 0.90. Using two additional chromosome 1 markers, we were able to map the CCV gene in the sequence 1pter-(CCV, D1S243)-D1S468-D1S214. The (enolase 1) gene has been mapped to this area; however, a mutation described in this gene did not give eye disease.
authors.affiliation: University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics B24.4, Danish Centre for Genome Research, Copenhagen.
authors.forename: H
authors.initials: H
authors.lastname: Eiberg
authors.forename: A M
authors.initials: AM
authors.lastname: Lund
authors.forename: M
authors.initials: M
authors.lastname: Warburg
authors.forename: T
authors.initials: T
authors.lastname: Rosenberg
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D016615:Telomere