Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Hum Mol Genet. 1998 Mar;7(3):471-4. doi: 10.1093/hmg/7.3.471.


Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cataract / congenital
  • Cataract / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21*
  • Crystallins / genetics*
  • Exons
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Introns
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Sequence Alignment
  • Sequence Homology, Amino Acid


  • Crystallins
  • Genetic Markers

Associated data

  • GENBANK/AF026952