{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T13:55:08Z","timestamp":1783432508006,"version":"3.54.6"},"reference-count":14,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703603"],"award-info":[{"award-number":["2022YFC2703603"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary coenzyme Q10 deficiency\u20101, caused by <jats:italic>COQ2<\/jats:italic> disease\u2010causing variants, is an autosomal recessive disorder, and genetic testing is the gold standard for diagnosing this condition. A Chinese boy with steroid\u2010resistant 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\u2009weeks after the onset of mild kidney dysfunction did not improve the proband's kidney outcome. Proband\u2010only whole\u2010exome sequencing and Sanger sequencing revealed two heteroallelic <jats:italic>COQ2<\/jats:italic> variants: a maternally inherited novel variant c.1013G\u2009&gt;\u2009A[p.(Gly338Glu)] in exon 6 and a variant of unknown origin c.1159C\u2009&gt;\u2009T[p.(Arg387*)] in exon 7. Subsequent long\u2010read sequencing demonstrated these two variants were located on different alleles. Our report extends the phenotypic and genotypic spectrum of <jats:italic>COQ2<\/jats:italic> glomerulopathy.<\/jats:p>","DOI":"10.1111\/nep.14329","type":"journal-article","created":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T03:15:10Z","timestamp":1717557310000},"page":"612-616","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Glomerular basement membrane ultrastructural changes in a patient with <scp><i>COQ2<\/i><\/scp> glomerulopathy: A case report"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9924-4395","authenticated-orcid":false,"given":"Liuyu","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing People's Republic of 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