2. Academic Validation
  3. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

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.
M Litt 1,  P Kramer,  D M LaMorticella,  W Murphey,  E W Lovrien,  R G Weleber
Affiliations

Affiliation

  • 1 Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA. [email protected]
PMID: 9467006 DOI: 10.1093/hmg/7.3.471
Abstract

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.

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