Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located complementary 1 Q subcomponent-binding protein, involved in mitochondrial homeostasis. Biallelic mutations in C1QBP cause mitochondrial cardiomyopathy and/or PEO with variable age of onset. Our patient showed only late-onset PEO-plus syndrome without overt cardiac involvement. Available data suggest that early‐onset cardiomyopathy variants localize in important structural domains and PEO-plus variants in the coiled‐coil region. Our patient demonstrates that C1QBP mutations should be considered in individuals with PEO with or without cardiomyopathy.

用 GENESIS 和 WeGET 分析的全外显子组测序 (WES) 揭示了一名患有进行性外眼肌麻痹 (PEO) 和多个 mtDNA 缺失的患者的C1QBP基因纯合缺失。该基因编码位于线粒体的互补 1 Q亚组分结合蛋白，参与线粒体稳态。C1QBP 中的双等位基因突变导致线粒体心肌病和/或 PEO，发病年龄不同。我们的患者仅表现出迟发性 PEO-plus 综合征，没有明显的心脏受累。现有数据表明，早发性心肌病变异定位于重要的结构域，PEO-plus 变异定位于螺旋线圈区域。我们的患者证明C1QBP 在伴有或不伴有心肌病的 PEO 患者中应考虑突变。