Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2 |
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Authors: | Jakobs P M Hess J F FitzGerald P G Kramer P Weleber R G Litt M |
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Affiliation: | Department of Molecular Medicine, Oregon Health Sciences University, Portland, OR, USA. |
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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. |
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