Mutation hot spots in 5q31-linked corneal dystrophies.

  title={Mutation hot spots in 5q31-linked corneal dystrophies.},
  author={Elena Korvatska and Francis L. Munier and Assia Djema{\"i} and Ming Xiu Wang and Beatrice E. Frueh and Auguste Gy Chiou and Sylvie Uffer and E Ballestrazzi and Richard Braunstein and Richard K Forster and William W. Culbertson and Helge Boman and L{\'e}onidas Zografos and Daniel F Schorderet},
  journal={American journal of human genetics},
  volume={62 2},
Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers, lattice type I, and Avellino corneal dystrophies. All four diseases are characterized by both progressive accumulation of corneal deposits and eventual loss of vision. We have identified a specific recurrent missense mutation for each type of dystrophy, in 10 independently ascertained families. Genotype analysis with microsatellite… CONTINUE READING
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