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Ocular coloboma: Genetic variants reveal a dynamic model of eye development.
American Journal of Medical Genetics Seminars in Medical Genetics, Part C ( IF 2.8 ) Pub Date : 2020-08-27 , DOI: 10.1002/ajmg.c.31831
Kevin H Yoon 1, 2 , Sabrina C Fox 1, 2 , Renée Dicipulo 1, 2 , Ordan J Lehmann 2, 3, 4 , Andrew J Waskiewicz 1, 2
Affiliation  

Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina, lens, iris, or optic nerve tissue. With a prevalence of 2–19 per 100,000 live births, coloboma, and microphthalmia, an associated ocular disorder, represent up to 10% of childhood blindness. It manifests due to the failure of choroid fissure closure during eye development, and it is a part of a spectrum of ocular disorders that include microphthalmia and anophthalmia. Use of genetic approaches from classical pedigree analyses to next generation sequencing has identified more than 40 loci that are associated with the causality of ocular coloboma. As we have expanded studies to include singleton cases, hereditability has been very challenging to prove. As such, researchers over the past 20 years, have unraveled the complex interrelationship amongst these 40 genes using vertebrate model organisms. Such research has greatly increased our understanding of eye development. These genes function to regulate initial specification of the eye field, migration of retinal precursors, patterning of the retina, neural crest cell biology, and activity of head mesoderm. This review will discuss the discovery of loci using patient data, their investigations in animal models, and the recent advances stemming from animal models that shed new light in patient diagnosis.

中文翻译:

眼球裂瘤:遗传变异揭示了眼睛发育的动态模型。

眼球裂瘤是一种先天性眼部疾病,在视网膜下,晶状体,虹膜或视神经组织中存在间隙。每100,000例活产中有2-19例患病,而眼球瘤和小眼症是一种相关的眼疾,占儿童盲症的比例高达10%。它的出现是由于眼睛发育过程中脉络膜裂隙闭合失败所致,并且是包括小眼症和失眼症在内的一系列眼疾的一部分。从经典的谱系分析到下一代测序的遗传方法的使用,已经确定了40多个与眼球疣的因果关系有关的基因座。随着我们扩大研究范围以涵盖单例病例,要证明其可遗传性一直是非常具有挑战性的。因此,过去20年的研究人员 已经利用脊椎动物模型生物揭示了这40个基因之间的复杂相互关系。这样的研究极大地增加了我们对眼睛发育的理解。这些基因的功能是调节眼场的初始规格,视网膜前体的迁移,视网膜的模式,神经rest细胞生物学以及中胚层的活动。本文将讨论使用患者数据进行基因座的发现,他们在动物模型中的研究以及动物模型中的最新进展,这些进展为患者诊断提供了新的思路。和中胚层的活动。本文将讨论使用患者数据进行基因座的发现,他们在动物模型中的研究以及动物模型中的最新进展,这些进展为患者诊断提供了新的思路。和中胚层的活动。本文将讨论使用患者数据进行基因座的发现,他们在动物模型中的研究以及动物模型中的最新进展,这些进展为患者诊断提供了新的思路。
更新日期:2020-09-24
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