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Berardo et al. J Transl Genet Genom 2020;4:22-35 I https://doi.org/10.20517/jtgg.2020.02 Page 33

and seizures. Am J Hum Genet 2008;82:623-30.
14. Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, et al. Diagnosis of mitochondrial disorders by concomitant next-generation
sequencing of the exome and mitochondrial genome. Genomics 2013;102:148-56.
15. Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate
polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 2007;117:765-72.
16. Vasta V, Merritt JL, Saneto RP, Hahn SH. Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. Pediatr Int
2012;54:585-601.
17. Rötig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, et al. Quinone-responsive multiple respiratory-chain dysfunction due to
widespread coenzyme Q10 deficiency. Lancet 2000;356:391-95.
18. López LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJT, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to
decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 2006;79:1125-29.
19. Quinzii C, Loos M. Multisystemic infantile CoQ10 deficiency with renal involvement. In: Saneto RP, Parikh S, Cohen BH, editors.
Mitochondrial case studies underlying mechanisms and diagnosis. Academic Press; 2016. pp. 299-304.
20. Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, et al. Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Pediatr Nephrol 2018;33:439-46.
21. Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol 2015;26:1279-89.
22. Forsgren M, Attersand A, Lake S, Grünler J, Swiezewska E, et al. Isolation and functional expression of human COQ2, a gene encoding a
polyprenyl transferase involved in the synthesis of CoQ. Biochem J 2004;382:519-26.
23. Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a
CoQ10-responsive condition. Neurology 2005;65:606-8.
24. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes
primary coenzyme Q10 deficiency. Am J Hum Genet 2006;78:345-49.
25. Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, et al. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan
failure. Eur J Hum Genet 2015;23:1254-58.
26. Jakobs BS, van den Heuvel LP, Smeets RJP, de Vries MC, Hien S, et al. A novel mutation in COQ2 leading to fatal infantile multisystem
disease. J Neurol Sci 2013;326:24-8.
27. Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, et al. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a
nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). Eur J
Paediatr Neurol 2013;17:625-30.
28. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, et al. COQ2 nephropathy: a newly described inherited
mitochondriopathy with primary renal involvement. J Am Soc Nephrol 2007;18:2773-80.
29. Eroglu F, Ozaltin F, Gönç N, Nalçacıoğlu H, Birsin Özçakar Z, et al. Response to early coenzyme Q10 supplementation is not sustained in
CoQ10 deficiency caused by CoQ2 mutation. Pediatr Neurol 2018;88:71-4.
30. Mitsui J, Matsukawa T, Ishiura H, Fukuda Y, Ichikawa Y, et al. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N
Engl J Med 2013;369:233-44.
31. Belogrudov GI, Lee PT, Jonassen T, Hsu AY, Gin P, et al. Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis.
Arch Biochem Biophys 2001;392:48-58.
32. Salviati L Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, et al. Haploinsufficiency of COQ4 causes coenzyme Q10
deficiency. J Med Genet 2012;49:187-91.
33. Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, et al. COQ4 mutations cause a broad spectrum of mitochondrial disorders
associated with CoQ10 deficiency. Am J Hum Genet 2015;96:309-17.
34. Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, et al. Mutations in COQ4, an essential component of coenzyme Q biosynthesis,
cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet 2015;52:627-35.
35. Sondheimer N, Hewson S, Cameron JM, Somers GR, Broadbent JD, et al. Novel recessive mutations in COQ4 cause severe infantile
cardiomyopathy and encephalopathy associated with CoQ 10 deficiency. Mol Genet Metab Rep 2017;12:23-7.
36. Ling TK, Law CY, Yan KW, Fong NC, Wong KC, et al. Clinical whole-exome sequencing reveals a common pathogenic variant in patients
with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy. Clin Chim Acta 2019;497:88-94.
37. Lu M, Zhou Y, Wang Z, Xia Z, Ren J, et al. Clinical phenotype, in silico and biomedical analyses, and intervention for an east asian
population-specific c.370G>A (p.G124S) COQ4 mutation in a chinese family with CoQ10 deficiency-associated leigh syndrome. J Hum
Genet 2019;64:297-304.
38. Yu MH, Tsang MH, Lai S, Ho MS, Tse DML, et al. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder
mutation in Southern Chinese. NPJ Genom Med 2019;4:18.
39. Bosch AM, Kamsteeg EJ, Rodenburg RJ, van Deutekom AW, Buis DR, et al. Coenzyme Q10 deficiency due to a COQ4 gene defect causes
childhood-onset spinocerebellar ataxia and stroke-like episodes. Mol Genet Metab Rep 2018;17:19-21.
40. Caglayan AO, Gumus H, Sandford E, Kubisiak TL, Ma Q, et al. COQ4 mutation leads to childhood-onset ataxia improved by CoQ10
administration. Cerebellum 2019;18:665.
41. Nguyen T, Casarin A, Desbats MA, Doimo M, Trevisson E, et al. Molecular characterization of the human COQ5 C-methyltransferase in
coenzyme Q10 biosynthesis. Biochim Biophys Acta 2014;184:1628-38.
42. Malicdan MC, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, et al. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar