Genetics of Congenital Cataract
Genetics of Congenital Cataract
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DOI：
10.1159/000442495
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发表时间：
2016-01-01
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影响因子：
--
通讯作者：
Nucci, Paolo
中科院分区：
文献类型：
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作者：
Pichi, Francesco;Lembo, Andrea;Nucci, Paolo
先天性白内障是一种在出生时或儿童早期出现的白内障，是婴儿期视力障碍和失明的最容易治疗的原因之一，估计患病率为每10，000例活产1-6例。大约50%的先天性白内障病例可能有遗传原因，并且这些病例非常异质。虽然先天性核性白内障可由多种因素引起，但基因突变仍然是最常见的原因。所有三种类型的孟德尔遗传都被报道为白内障;然而，常染色体显性遗传似乎是最常见的。透镜的透明度和高折射率是通过纤维细胞的精确结构和透镜蛋白质在其浓度、稳定性和超分子组织方面的稳态来实现的。对遗传性先天性白内障的研究已经鉴定出几类编码蛋白质的候选基因，这些蛋白质包括晶体蛋白、晶状体特异性连接蛋白、水通道蛋白、细胞骨架结构蛋白和发育调节因子。在这篇综述中，我们强调了已确定的遗传突变，占先天性核性白内障。(C)2016 S. Karger AG，巴塞尔
Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract. (C) 2016 S. Karger AG, Basel