Combined oxidative phosphorylation deficiency

Definition:

Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It has been reported that the mutations in the ribosomal protein gene (MRPS) cause severe antenatal-onset infantile disease. The patients with COXPD caused by mutations in mitochondrial translation elongation factor genes (GFM1, GFM2, TUFM, TSFM and C12orf65) have also been reported.

References:

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[13]. Enrico Bugiardini, et al. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. [Content Brief]

[14]. Eva Lausberg, et al. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021 Jun 15;131(12):e143078. [Content Brief]

[15]. Gordon J Hildick-Smith, et al. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet. 2013 Nov 7;93(5):906-14. [Content Brief]

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[17]. Irit Hochberg, et al. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. [Content Brief]

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[20]. Kalliopi Sofou, et al. Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Mol Genet Genomic Med. 2015 Jan;3(1):59-68. [Content Brief]

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[22]. Lucia Valente, et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. [Content Brief]

[23]. Marisa W Friederich, et al. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 Oct 3;9(1):4065. [Content Brief]

[24]. Marjan E Steenweg, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. [Content Brief]

[25]. Metodi D Metodiev, et al. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. Am J Hum Genet. 2016 May 5;98(5):993-1000. [Content Brief]

[26]. Mohammad K Eldomery, et al. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 Nov 1;8(1):106. [Content Brief]

[27]. Monika Oláhová, et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18;12(1):1135. [Content Brief]

[28]. Nicole J Lake, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017 Aug 3;101(2):239-254. [Content Brief]

[29]. Nurun Nahar Borna, et al. Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. Neurogenetics. 2019 Mar;20(1):9-25. [Content Brief]

[30]. René G Feichtinger, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017 Oct 5;101(4):525-538. [Content Brief]

[31]. Robert Kopajtich, et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet. 2014 Dec 4;95(6):708-20. [Content Brief]

[32]. Robert W Taylor, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014 Jul 2;312(1):68-77. [Content Brief]

[33]. Sali M K Farhan, et al. Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. Mol Genet Genomic Med. 2014 Jan;2(1):73-80. [Content Brief]

[34]. Sze Chern Lim, et al. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. [Content Brief]

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[36]. Vanessa Vedrenne, et al. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. Am J Hum Genet. 2012 Nov 2;91(5):912-8. [Content Brief]

[37]. Vivienne C M Neeve, et al. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion. 2013 Nov;13(6):743-8. [Content Brief]

[38]. Yoshihito Kishita, et al. Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. Am J Hum Genet. 2015 Nov 5;97(5):761-8. [Content Brief]

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