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.

肌张力障碍是一种多动性运动障碍，其特征是持续或间歇性不自主肌肉收缩，导致异常姿势和/或重复运动。在本报告中，我们在一名患有颈部和上肢肌张力障碍但没有其他神经或神经外特征的患者中发现了VPS16 (NM_022575.4:c.240+3G>C)中的一种新型杂合剪接位点变异。对患者血液 mRNA 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，这可预见地导致移码 [p.(Ala48Valfs*14)]。尽管VPS16相关肌张力障碍中描述的剪接影响变异体很少，但我们的报告在 mRNA 水平上提供了第一个完全表征的变异体。