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

PM Jakobs, JF Hess, PG FitzGerald, P Kramer… - The american journal of …, 2000 - cell.com
PM Jakobs, JF Hess, PG FitzGerald, P Kramer, RG Weleber, M Litt
The american journal of human genetics, 2000cell.com
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 …
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, ΔE233, 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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