Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

• Published in: American journal of human genetics Vol. 90; no. 1; pp. 142 - 151
• Main Authors: Weraarpachai, Woranontee, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Auré, Karine, Rötig, Agnès, Lombès, Anne, Shoubridge, Eric A.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 13.01.2012; Cell Press; Elsevier
• Subjects: Acidosis, Lactic - genetics; Biological and medical sciences; Chromosomes; Cyclooxygenase 1 - biosynthesis; Electron Transport Complex IV - biosynthesis; Fatal Outcome; Female; Fibroblasts - enzymology; Fundamental and applied biological sciences. Psychology; Gene expression; General aspects. Genetic counseling; Genetic research; Genetics of eukaryotes. Biological and molecular evolution; Homozygote; Humans; Infant, Newborn; Medical genetics; Medical sciences; Membrane Proteins - genetics; Membranes; Mitochondria - enzymology; Mitochondria - genetics; Mitochondrial Proteins - genetics; Molecular and cellular biology; Mutation; Mutation, Missense; Protein synthesis; Human; Neonatal; Enzyme; Couple; Cytochrome-c oxidase; Fatal course; Newborn; Synthesis; Genetics; Oxidoreductases; Lactic acid; Mutation; Metabolic acidosis

We investigated a family in which the index subject presented with severe congenital lactic acidosis and dysmorphic features associated with a cytochrome c oxidase (COX)-assembly defect and a specific decrease in the synthesis of COX I, the subunit that nucleates COX assembly. Using a combination of...