与30型肌张力障碍相关的新型VPS16变体引起的异常剪接。

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY Neurogenetics Pub Date : 2023-07-01 Epub Date: 2023-05-24 DOI:10.1007/s10048-023-00720-0

Mariana Santos, João Massano, Alexandra Manuel Lopes, Ana Filipa Brandão, João Parente Freixo, Jorge Oliveira

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引用次数: 0

摘要

肌张力障碍是一种高动力运动障碍，其特征是持续或间歇性的不自主肌肉收缩，导致姿势异常和/或重复运动。在本报告中，我们在一名没有其他神经或额外神经特征的颈部和上肢肌张力障碍患者的VPS16中发现了一种新的杂合剪接位点变体（NM_022575.4:c.240+3G>c）。对患者血液信使核糖核酸的分析显示，外显子3/内含子3供体剪接位点被破坏，导致外显子3跳跃，这可预测地导致移码[p.（Ala48Valfs*14）]。尽管VPS16相关肌张力障碍中描述的影响剪接的变体很少，但我们的报告在信使核糖核酸水平上提供了第一个完全表征的变体。

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Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures and/or repetitive movements. In this report, we identified a novel heterozygous splice-site variant in VPS16 (NM_022575.4:c.240+3G>C) in a patient with cervical and upper limb dystonia without other neurological or extra-neurological features. Analysis of patient's blood mRNA showed disruption of exon 3/intron 3 donor splice-site, leading to exon 3 skipping, which predictably results in a frameshift [p.(Ala48Valfs*14)]. Despite the scarcity of splice-affecting variants described in VPS16-related dystonia, our report contributes with the first fully characterized variant at the mRNA level.

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.