Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans
Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans
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DOI：
10.1086/324158
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发表时间：
2001-11-01
影响因子：
9.8
通讯作者：
Quinlan, RA
中科院分区：
文献类型：
--
作者：
Berry, V;Francis, P;Quinlan, RA
先天性白内障是婴儿双侧视力损害的重要原因。在一个四代英国血统的家族中，我们将显性先天性后极性白内障定位于染色体11 q22-q22.3。最大LOD得分为3.92，在重组分数0处，获得标记D11 S898，其靠近编码晶状体蛋白α-B蛋白的基因（CRYAB）。通过对该家系白内障患者的ESTAB基因编码区进行序列测定，发现ESTAB基因第3外显子存在450 delA的缺失突变，该突变与该家系白内障的发生有关。该突变导致密码子150的移码，并产生由184个残基组成的异常蛋白。这是第一个报告的突变，在这个基因，导致孤立的先天性白内障。
Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at recombination fraction 0, was obtained for marker D11S898, near the gene that encodes crystallin alpha-B protein (CRYAB). By sequencing the coding regions of CRYAB, we found in exon 3 a deletion mutation, 450delA, that is associated with cataract in this family. The mutation resulted in a frameshift in codon 150 and produced an aberrant protein consisting of 184 residues. This is the first report of a mutation, in this gene, resulting in isolated congenital cataract.