遗传性视网膜及眼部疾病的半胚变异:附临床病例的文献回顾。

IF 5.1 2区 医学 Q1 OPHTHALMOLOGY
Tobin B.T. Thuma , Rebecca A. Procopio , Hiram J. Jimenez , Kammi B. Gunton , Jose S. Pulido
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引用次数: 0

摘要

半胚变异体通过减少基因产生的mRNA或蛋白质产物的数量或产生功能降低的基因产物来减少但不消除基因功能。许多畸形变异与遗传性视网膜疾病(IRDs)和其他遗传性眼部疾病有关;然而,在科学文献中,“次胚”一词的使用存在异质性。我们搜索了所有报道的引起ird和眼部疾病的半形变异。我们还讨论了在过去的十年里,在我们的眼遗传部门的患者群体中存在的畸形变异。我们建议应该采用标准化的标准来使用术语“亚形态”来描述基因变异,以改善遗传咨询和患者护理结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases

Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the amount of mRNA or protein product produced by a gene or by production of a gene product with reduced function. Many hypomorphic variants have been implicated in inherited retinal diseases (IRDs) and other genetic ocular conditions; however, there is heterogeneity in the use of the term “hypomorphic” in the scientific literature. We searched for all hypomorphic variants reported to cause IRDs and ocular disorders. We also discuss the presence of hypomorphic variants in the patient population of our ocular genetics department over the past decade. We propose that standardized criteria should be adopted for use of the term “hypomorphic” to describe gene variants to improve genetic counseling and patient care outcomes.

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来源期刊
Survey of ophthalmology
Survey of ophthalmology 医学-眼科学
CiteScore
10.30
自引率
2.00%
发文量
138
审稿时长
14.8 weeks
期刊介绍: Survey of Ophthalmology is a clinically oriented review journal designed to keep ophthalmologists up to date. Comprehensive major review articles, written by experts and stringently refereed, integrate the literature on subjects selected for their clinical importance. Survey also includes feature articles, section reviews, book reviews, and abstracts.
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