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

Am J Hum Genet. 2000 Apr;66(4):1432-6. doi: 10.1086/302872. Epub 2000 Mar 16.


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

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Cataract / congenital*
  • Cataract / genetics*
  • Cataract / physiopathology
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Eye Proteins / chemistry
  • Eye Proteins / genetics*
  • Family Health
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Intermediate Filament Proteins / chemistry
  • Intermediate Filament Proteins / genetics*
  • Introns / genetics
  • Male
  • Molecular Sequence Data
  • Protein Structure, Secondary
  • Sequence Deletion / genetics*


  • Eye Proteins
  • Intermediate Filament Proteins
  • phakinin

Associated data

  • GENBANK/AF195044
  • GENBANK/AF195849