RFC1: Motifs and phenotypes

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY Revue neurologique Pub Date : 2024-05-01 DOI:10.1016/j.neurol.2024.03.006

V. Delforge , C. Tard , J.-B. Davion , K. Dujardin , A. Wissocq , C.-M. Dhaenens , E. Mutez , V. Huin

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引用次数: 0

Abstract

Biallelic intronic expansions (AAGGG)_exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the RFC1 gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes associated with the RFC1 gene are highly heterogeneous, making molecular diagnosis and clinical screening and investigation challenging. In this review we will provide clues to give a better understanding of RFC1 disease. We briefly discuss new methods for molecular diagnosis, the origin of cough in RFC1 disease, and research perspectives.

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RFC1：模式和表型。

RFC1 基因内含子 2 的双拷贝内含子扩增 (AAGGG)exp 已被证明是晚发性共济失调的常见病因。自首次描述以来，与 RFC1 基因相关的表型、神经损伤和致病变异已被频繁更新。在此，我们回顾了与 RFC1 基因相关的各种图案、遗传变异和表型。我们在PubMed上搜索了2019年3月1日至2024年1月15日期间发表的科学文章。与 RFC1 基因相关的图案和表型具有高度异质性，这使得分子诊断和临床筛查及调查具有挑战性。在这篇综述中，我们将提供一些线索，让大家更好地了解 RFC1 疾病。我们将简要讨论分子诊断的新方法、RFC1 疾病咳嗽的起源以及研究前景。

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来源期刊

Revue neurologique 医学-临床神经学

CiteScore

4.80

自引率

0.00%

发文量

598

审稿时长

55 days

期刊介绍： The first issue of the Revue Neurologique, featuring an original article by Jean-Martin Charcot, was published on February 28th, 1893. Six years later, the French Society of Neurology (SFN) adopted this journal as its official publication in the year of its foundation, 1899. The Revue Neurologique was published throughout the 20th century without interruption and is indexed in all international databases (including Current Contents, Pubmed, Scopus). Ten annual issues provide original peer-reviewed clinical and research articles, and review articles giving up-to-date insights in all areas of neurology. The Revue Neurologique also publishes guidelines and recommendations. The Revue Neurologique publishes original articles, brief reports, general reviews, editorials, and letters to the editor as well as correspondence concerning articles previously published in the journal in the correspondence column.