title: Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
abstract: Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least one-third of all cases are familial; autosomal-dominant congenital cataract appears to be the most-common familial form in the Western world. Elsewhere, in family ADCC-3, we mapped an autosomal-dominant cataract gene to chromosome 3q21-q22, near the gene that encodes a lens-specific beaded filament protein gene, BFSP2. By sequencing the coding regions of BFSP2, we found that a deletion mutation, DeltaE233, is associated with cataracts in this family. This is the first report of an inherited cataract that is caused by a mutation in a cytoskeletal protein.
authors.affiliation: Department of Molecular Medicine, Oregon Health Sciences University, Portland, OR, USA.
authors.forename: P M
authors.initials: PM
authors.lastname: Jakobs
authors.forename: J F
authors.initials: JF
authors.lastname: Hess
authors.forename: P G
authors.initials: PG
authors.lastname: FitzGerald
authors.forename: P
authors.initials: P
authors.lastname: Kramer
authors.forename: R G
authors.initials: RG
authors.lastname: Weleber
authors.forename: M
authors.initials: M
authors.lastname: Litt
mesh_terms: D000595:Amino Acid Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000737:chemistry / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D017433:Protein Structure, Secondary; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; C084808:phakinin