Autosomal Dominant Congenital Cataract Associated with a Missense Mutation in the Human Alpha Crystallin Gene CRYAA
M Litt, P Kramer, DM LaMorticella… - Human molecular …, 1998 - academic.oup.com
M Litt, P Kramer, DM LaMorticella, W Murphey, EW Lovrien, RG Weleber
Human molecular genetics, 1998•academic.oup.comCongenital 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.
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.
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.
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