Abstract：
Primary coenzyme Q10 deficiency-1, caused by COQ2 disease-causing variants, is an autosomal recessive disorder, and genetic testing is the gold standard for diagnosing this condition. A Chinese boy with steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, and progressive kidney insufficiency was included in the study. Electron microscopy revealed the glomerular basement membrane with irregular thickness and lamellation with diffuse effacement of foot processes in the podocytes, and swollen mitochondria with abnormal cristae in the podocytes. Coenzyme Q10 supplementation started about 3 weeks after the onset of mild kidney dysfunction did not improve the proband\'s kidney outcome. Proband-only whole-exome sequencing and Sanger sequencing revealed two heteroallelic COQ2 variants: a maternally inherited novel variant c.1013G > A[p.(Gly338Glu)] in exon 6 and a variant of unknown origin c.1159C > T[p.(Arg387*)] in exon 7. Subsequent long-read sequencing demonstrated these two variants were located on different alleles. Our report extends the phenotypic and genotypic spectrum of COQ2 glomerulopathy.
摘要：
原发性辅酶Q10缺乏-1，由COQ2致病变体引起，是一种常染色体隐性遗传疾病,基因检测是诊断这种情况的黄金标准。一个患有类固醇抗性肾病综合征的中国男孩，局灶性节段肾小球硬化,进行性肾功能不全被纳入研究.电子显微镜显示肾小球基底膜具有不规则的厚度和层状，足细胞中的足突弥漫性消失，和线粒体肿胀，足细胞中有异常的cr。在轻度肾功能障碍发作后约3周开始补充辅酶Q10并不能改善先证者的肾脏结局。仅前带全外显子组测序和Sanger测序揭示了两个异等位基因COQ2变体：母系遗传的新变体c.1012G>A[p。（Gly338Glu）]在外显子6和未知来源的变体c.1159C>T[p。(Arg387*)]在外显子7中。随后的长读数测序证明这两种变体位于不同的等位基因上。我们的报告扩展了COQ2肾小球病的表型和基因型谱。
