Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation. Issue 3 (29th January 2013)

• Record Type: Journal Article
• Authors: Miyake, Noriko; Yano, Shoji; Sakai, Chika; Hatakeyama, Hideyuki; Matsushima, Yuichi; Shiina, Masaaki; Watanabe, Yoriko; Bartley, James; Abdenur, Jose E.; Wang, Raymond Y.; Chang, Richard; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Goto, Yu‐ichi; Matsumoto, Naomichi
• Is Part Of: Human mutation. Volume 34:Issue 3(2013:Mar.)
• Page Start: 446
• Page End: 452
• Publication Date: 2013-01-29
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22257
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22257-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Whole exome sequencing combined with homozygosity mapping in a consanguineous family revealed that a homozygous missense mutation (p.Arg183Trp) in <italic>UQCRC2</italic> causes a novel type of neonatal‐onset recurrent metabolic decompensation (hypoglycemia, lactic acidosis, ketosis, and hyperammonemia). <italic>UQCRC2</italic> encodes a core protein of complex III and the mutation results in instability of mitochondrial complex III and supercomplex with functional deficiency. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1tt8dhpj" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>