The gamma-crystallins and human cataracts: a puzzle made clearer.

  title={The gamma-crystallins and human cataracts: a puzzle made clearer.},
  author={Elise Heon and Megan Priston and Daniel F Schorderet and Gail D. Billingsley and P O Girard and N. H. Lubsen and Francis L. Munier},
  journal={American journal of human genetics},
  volume={65 5},
Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain unclear. We recently mapped the aculeiform cataract to the gamma-crystallin locus (CRYG) on chromosome 2q33-35, and mutational analysis of the CRYG-genes cluster identified the aculeiform-cataract mutation in exon 2 of gamma-crystallin D (CRYGD). This mutation occurred in a highly conserved amino acid and could be associated with an impaired folding of CRYGD. During… CONTINUE READING

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