Human Molecular Genetics, Vol 7, 471-474, Copyright © 1998 by Oxford University Press
M Litt, P Kramer, DM LaMorticella, W Murphey, EW Lovrien and RG Weleber
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.
ARTICLES
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA. litt@ohsu.edu
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