title: Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis.
abstract: We report the mapping of the locus for autosomal recessive cornea plana congenita (CNA2; MIM 217300) by linkage analysis to the approximately 10-cM interval between markers D12S82 and D12S327. The recessively inherited disorder studied here is more severe than dominant forms. Its main manifestations are reduced curvature and hazy limbus of the cornea, opacities in the corneal stroma, and marked corneal arcus at early age. Our results provide a starting point for the positional cloning of CNA2 and the elucidation of the pathogenesis of the disease.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: E
authors.initials: E
authors.lastname: Tahvanainen
authors.forename: H
authors.initials: H
authors.lastname: Forsius
authors.forename: E
authors.initials: E
authors.lastname: Karila
authors.forename: S
authors.initials: S
authors.lastname: Ranta
authors.forename: M
authors.initials: M
authors.lastname: Eerola
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: P
authors.initials: P
authors.lastname: Sistonen
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
mesh_terms: D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003315:Cornea / Q000002:abnormalities / Q000196:embryology; D003317:Corneal Dystrophies, Hereditary / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005387:Finland / Q000453:epidemiology; D005808:Genes, Recessive; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers