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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Cataract / congenital*
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Cataract / genetics*
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Cataract / physiopathology
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Child, Preschool
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Chromosome Mapping
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Chromosomes, Human, Pair 3 / genetics
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DNA Mutational Analysis
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Exons / genetics
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Eye Proteins / chemistry
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Eye Proteins / genetics*
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Family Health
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Female
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Genes, Dominant / genetics*
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Humans
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Intermediate Filament Proteins / chemistry
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Intermediate Filament Proteins / genetics*
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Introns / genetics
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Male
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Molecular Sequence Data
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Protein Structure, Secondary
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Sequence Deletion / genetics*
Substances
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Eye Proteins
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Intermediate Filament Proteins
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phakinin
Associated data
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GENBANK/AF195044
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GENBANK/AF195849