Autosomal-dominant congenital cataract associated with a deletion mutationin the human beaded filament protein gene BFSP2

Congenital cataracts are a common major abnormality of the eye that frequen tly cause blindness in infants. At least one-third of all cases are familia l; autosomal-dominant congenital cataract appears to be the most-common fam ilial 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, Delta E233 , 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 protei n.