Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
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.
Jakobs
P M
PM
Department of Molecular Medicine, Oregon Health Sciences University, Portland, OR, USA.
Hess
J F
JF
FitzGerald
P G
PG
Kramer
P
P
Weleber
R G
RG
Litt
M
M
D000595:Amino Acid Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000737:chemistry / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D017433:Protein Structure, Secondary; D017384:Sequence Deletion / Q000235:genetics*
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; C084808:phakinin