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    Hum Mol Genet. 1998 Mar;7(3):471-4.

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

    Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG.

    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA. litt@ohsu.edu

    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.

    PMID: 9467006 [PubMed - indexed for MEDLINE]

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