YY1 mutations cause Gabriele‐de Vries syndrome, a recently described condition involving cognitive impairment, facial dysmorphism and intrauterine growth restriction. Movement disorders were reported in 5/10 cases of the original series, but no detailed description was provided. Here we present a 21‐year‐old woman with a mild intellectual deficit, facial dysmorphism and a complex movement disorder including an action tremor, cerebellar ataxia, dystonia, and partial ocular apraxia as the presenting and most striking feature. Whole‐exome sequencing revealed a novel heterozygous de novo mutation in YY1 [NM: 003403.4 (YY1): c.907 T > C; p.(Cys303Arg)], classified as pathogenic according to the ACMG guidelines.

中文翻译：

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杂合性YY1突变（Gabriele-de Vries综合征）患者的复杂运动障碍。

YY1突变会导致Gabriele-de Vries综合征，这是最近描述的一种涉及认知障碍，面部畸形和子宫内生长受限的疾病。在原始系列的5/10例病例中报告了运动障碍，但未提供详细描述。在这里，我们介绍了一名21岁的女性，该女性具有轻度的智力缺陷，面部畸形和复杂的运动障碍，包括动作震颤，小脑性共济失调，肌张力障碍和部分性眼部失用症，是最明显的特征。全外显子组测序显示YY1中有一个新的杂合从头突变[NM：003403.4（YY1）：c.907 T> C; p。（Cys303Arg）]，根据ACMG指南分类为致病菌。