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

被引：378

作者：

Litt, M ^{[1
]}

Kramer, P

LaMorticella, DM

Murphey, W

Lovrien, EW

Weleber, RG

机构：

[1] Oregon Hlth Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[2] Oregon Hlth Sci Univ, Dept Neurol, Portland, OR 97201 USA

[3] Oregon Hlth Sci Univ, Dept Ophthalmol, Portland, OR 97201 USA

来源：

HUMAN MOLECULAR GENETICS | 1998年 / 7卷 / 03期

关键词：

D O I：

10.1093/hmg/7.3.471

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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-P 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.

引用

页码：471 / 474

页数：4

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