Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
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DOI：
10.1093/hmg/7.3.471
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发表时间：
1998-03-01
影响因子：
3.5
通讯作者：
Weleber, RG
中科院分区：
文献类型：
--
作者：
Litt, M;Kramer, P;Weleber, RG
先天性白内障是一种常见的主要眼睛异常，经常导致婴儿失明。所有病例中至少有三分之一是家族性的；常染色体显性先天性白内障（ADCC）似乎是西方世界最常见的家族性白内障。我们将 ADCC-P 家族中的 ADCC 基因定位到靠近 α-晶状体蛋白基因 CRYAA 的染色体 21q22.3。通过对 CRYAA 编码区进行测序，我们发现错义突变 R116C 与该家族的 ADCC 相关。
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.