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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.

SUBMITTER: Jakobs PM

PROVIDER: S-EPMC1288210 | biostudies-literature | 2000 Apr

REPOSITORIES: biostudies-literature

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

Jakobs P M PM Hess J F JF FitzGerald P G PG Kramer P P Weleber R G RG Litt M M

American journal of human genetics 20000316 4

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 dele ...[more]

PMID: 10739768

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