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

Michael Litt, Patricia Kramer, Dante M. LaMorticella, William Murphey, Everett W. Lovrien, Richard G. Weleber

Research output: Contribution to journalArticle

402 Scopus citations

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 α-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.

Original languageEnglish (US)
Pages (from-to)471-474
Number of pages4
JournalHuman molecular genetics
Volume7
Issue number3
DOIs
StatePublished - Mar 1998

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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