{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T16:33:10Z","timestamp":1726763590931},"reference-count":10,"publisher":"Cold Spring Harbor Laboratory","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>Electron transport chain (ETC) disorders are a group of rare, multisystem diseases caused by impaired oxidative phosphorylation and energy production. Deficiencies in complex III (CIII), also known as ubiquinol\u2013cytochrome<jats:italic>c<\/jats:italic>reductase, are particularly rare in humans. Ubiquinol\u2013cytochrome<jats:italic>c<\/jats:italic>reductase core protein 2 (<jats:italic>UQCRC2<\/jats:italic>) encodes a subunit of CIII that plays a crucial role in dimerization. Several pathogenic<jats:italic>UQCRC2<\/jats:italic>variants have been identified in patients presenting with metabolic abnormalities that include lactic acidosis, hyperammonemia, hypoglycemia, and organic aciduria. Almost all previously reported<jats:italic>UQCRC2<\/jats:italic>-deficient patients exhibited neurodevelopmental involvement, including developmental delays and structural brain anomalies. Here, we describe a girl who presented at 3 yr of age with lactic acidosis, hyperammonemia, and hypoglycemia but has not shown any evidence of neurodevelopmental dysfunction by age 15. Whole-exome sequencing revealed compound heterozygosity for two novel variants in<jats:italic>UQCRC2<\/jats:italic>: c.1189G&gt;A; p.Gly397Arg and c.437T&gt;C; p.Phe146Ser. Here, we discuss the patient's clinical presentation and the likely pathogenicity of these two missense variants.<\/jats:p>","DOI":"10.1101\/mcs.a006295","type":"journal-article","created":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T21:05:33Z","timestamp":1694725533000},"page":"a006295","source":"Crossref","is-referenced-by-count":2,"title":["Novel pathogenic<i>UQCRC2<\/i>variants in a female with normal neurodevelopment"],"prefix":"10.1101","volume":"9","author":[{"given":"Lea","family":"Abou Haidar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert C.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panayotis","family":"Pachnis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongli","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Garrett K.","family":"Gotway","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Ni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph J.","family":"DeBerardinis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2023,9,14]]},"reference":[{"key":"2024011009350917000_9.4.a006295.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2022.12.001"},{"key":"2024011009350917000_9.4.a006295.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2021.166147"},{"key":"2024011009350917000_9.4.a006295.3","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2015.00134"},{"key":"2024011009350917000_9.4.a006295.4","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.22"},{"key":"2024011009350917000_9.4.a006295.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2012.11.015"},{"key":"2024011009350917000_9.4.a006295.6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22257"},{"key":"2024011009350917000_9.4.a006295.7","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12218"},{"key":"2024011009350917000_9.4.a006295.8","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_50"},{"key":"2024011009350917000_9.4.a006295.9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2024011009350917000_9.4.a006295.10","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202114397"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006295","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T17:35:42Z","timestamp":1704908142000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,14]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,1,10]]},"published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1101\/mcs.a006295"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006295","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,14]]}}}