ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder.

IF 13.6 2区生物学 Q1 GENETICS & HEREDITY

Trends in Genetics Pub Date : 2024-11-01 Epub Date: 2024-10-01 DOI:10.1016/j.tig.2024.09.005

Vanessa F Burns, Elizabeth J Radford

引用次数: 0

Abstract

Two recent papers have identified genetic variants in the noncoding gene RNU4-2 to cause a frequent neurodevelopmental disorder. This work will have a substantial impact on the rare disease community, leading to thousands of diagnoses worldwide. These studies also highlight the untapped diagnostic potential of noncoding regions.

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ReNU综合症--一种新发现的神经发育障碍。

最近的两篇论文确定了非编码基因 RNU4-2 的遗传变异会导致一种常见的神经发育障碍。这项工作将对罕见病领域产生重大影响，从而在全球范围内诊断出数以千计的罕见病。这些研究还凸显了非编码区尚未开发的诊断潜力。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Trends in Genetics 生物-遗传学

CiteScore

20.90

自引率

0.90%

发文量

160

审稿时长

6-12 weeks

期刊介绍： Launched in 1985, Trends in Genetics swiftly established itself as a "must-read" for geneticists, offering concise, accessible articles covering a spectrum of topics from developmental biology to evolution. This reputation endures, making TiG a cherished resource in the genetic research community. While evolving with the field, the journal now embraces new areas like genomics, epigenetics, and computational genetics, alongside its continued coverage of traditional subjects such as transcriptional regulation, population genetics, and chromosome biology. Despite expanding its scope, the core objective of TiG remains steadfast: to furnish researchers and students with high-quality, innovative reviews, commentaries, and discussions, fostering an appreciation for advances in genetic research. Each issue of TiG presents lively and up-to-date Reviews and Opinions, alongside shorter articles like Science & Society and Spotlight pieces. Invited from leading researchers, Reviews objectively chronicle recent developments, Opinions provide a forum for debate and hypothesis, and shorter articles explore the intersection of genetics with science and policy, as well as emerging ideas in the field. All articles undergo rigorous peer-review.