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, 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.
Original language | English (US) |
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Pages (from-to) | 1432-1436 |
Number of pages | 5 |
Journal | American Journal of Human Genetics |
Volume | 66 |
Issue number | 4 |
DOIs | |
State | Published - 2000 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)