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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.

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


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.

[Indexed for MEDLINE]

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