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

作者：Michael J. Litt · 发表于：Human Molecular Genetics · 年份：1998 · DOI：10.1093/hmg/7.3.471 · 被引用次数：450 · 研究领域：Connexins and lens biology、Yersinia bacterium, plague, ectoparasites research、Heat shock proteins research

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.