Autosomal recessive juvenile onset cataract associated with mutation in BFSP1

Hum Genet. 2007 May;121(3-4):475-82. doi: 10.1007/s00439-006-0319-6. Epub 2007 Jan 16.


A genome wide scan in a consanguineous family of Indian origin with autosomal recessive developmental cataracts was performed by two-point linkage analysis with 382 microsatellite markers. It showed linkage to markers on chromosome 20q, between D20S852 and D20S912, with a maximum lod score of 5.4 obtained with D20S860. This region encompasses the beaded filament structural protein 1 (BFSP1) gene. Direct sequencing revealed a 3343 bp deletion including exon 6 (c.736-1384_c.957-66 del) predicted to result in a shift of the open reading frame. This mutation was absent in 50 control individuals from south India. This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts. This further increases the genetic heterogeneity of inherited cataracts and provides clues as to the importance of BFSP1 in the cell biology of intermediate filaments and their role in the eye lens.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Cataract / genetics*
  • Cataract / pathology
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 20
  • Eye Proteins / genetics*
  • Genes, Recessive*
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Deletion


  • Eye Proteins
  • Intermediate Filament Proteins
  • filensin