Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome

References

• Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, et al. 2013. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet. 50:704–714.
   PubMed Web of Science ®Google Scholar
• Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng S-W, Graham BH, Wong L-J. 2008. The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab. 94:485–490.
   PubMed Web of Science ®Google Scholar
• Castagna AE, Addis J, McInnes RR, Clarke JTR, Ashby P, Blaser S, Robinson BH. 2007. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. Am J Med Genet A. 143A:808–816.
   PubMed Web of Science ®Google Scholar
• Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ. 2007. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Neuropediatrics. 38:313–316.
   PubMed Web of Science ®Google Scholar
• Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, et al. 2003. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 40:188–191.
   PubMed Web of Science ®Google Scholar
• Finsterer J. 2008. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 39:223–235.
   PubMed Web of Science ®Google Scholar
• Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, et al. 2012. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis. 35:749–759.
   PubMed Web of Science ®Google Scholar
• Hsieh Y-T, Yang M-T, Peng Y-J, Hsu W-C. 2011. Central retinal vein occlusion as the initial manifestation of LHON/MELAS overlap syndrome with mitochondrial DNA G13513A mutation—case report and literature review. Ophthalmic Genet. 32:31–38.
   PubMed Web of Science ®Google Scholar
• Jankevics E, Inaskina I, Pelnena D, Stavusis J, Pliss L, inventors; Latvian Biomedical Research and Study Centre, assignee. 2016 Nov 9. A kit for detecting mutation or polymorphism in the human mitochondrial DNA. European patent EP3091083 (A1) — 2016-11-09.
   Google Scholar
• Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. 2003. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol. 54:473–478.
   PubMed Web of Science ®Google Scholar
• Kolarova H, Liskova P, Tesarova M, Kucerova Vidrova V, Forgac M, Zamecnik J, Hansikova H, Honzik T. 2016. Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. Ophthalmic Genet. 37:419–423.
   PubMed Web of Science ®Google Scholar
• Lake NJ, Compton AG, Rahman S, Thorburn DR. 2016. Leigh syndrome: one disorder, more than 75 monogenic causes. Ann Neurol. 79:190–203.
   PubMed Web of Science ®Google Scholar
• Leigh D. 1951. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 14:216–221.
   PubMed Web of Science ®Google Scholar
• Makino M, Horai S, Goto Y, Nonaka I. 2000. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications. J Hum Genet. 45:69–75.
   PubMed Web of Science ®Google Scholar
• Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JAM. 2006. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 67:1823–1826.
   PubMed Web of Science ®Google Scholar
• Morris AAM, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Turnbull DM, Woodward CE, Harding AE, Lake BD, Harding BN, et al. 1996. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol. 40:25–30.
   PubMed Web of Science ®Google Scholar
• Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. 2005. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics. 36:314–318.
   PubMed Web of Science ®Google Scholar
• Naess K, Freyer C, Bruhn H, Wibom R, Malm G, Nennesmo I, von Döbeln U, Larsson NG. 2009. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome. Biochim Biophys Acta – Bioenerg. 1787:484–490.
   PubMed Web of Science ®Google Scholar
• Pliss L, Brakmanis A, Ranka R, Elferts D, Krumina A, Baumanis V. 2011. The link between mitochondrial DNA hypervariable segment I heteroplasmy and ageing among genetically unrelated Latvians. Exp Gerontol. 46:560–568.
   PubMed Web of Science ®Google Scholar
• Rahman S, Blok RB, Dahl HHM, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. 1996. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 39:343–351.
   PubMed Web of Science ®Google Scholar
• Rahman S, Poulton J, Marchington D, Suomalainen A. 2001. Decrease of 3243 A->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet. 68:238–240.
   PubMed Web of Science ®Google Scholar
• Ramos A, Santos C, Alvarez L, Nogués R, Aluja MP. 2009. Human mitochondrial DNA complete amplification and sequencing: a new validated primer set that prevents nuclear DNA sequences of mitochondrial origin co-amplification. Electrophoresis. 30:1587–1593.
   PubMed Web of Science ®Google Scholar
• Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. 1997. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun. 238:326–328.
   PubMed Web of Science ®Google Scholar
• Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH. 1992. Heteroplasmic mtDNA mutation (T–G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet. 50:852–858.
   PubMed Web of Science ®Google Scholar
• Thorburn DR, Rahman S. 1993. Mitochondrial DNA-associated Leigh syndrome and NARP. Seattle: University of Washington.
   Google Scholar
• Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Calderon FL, Simionati B, Valle G, Richards M, et al. 2001. Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet. 69:1348–1356.
   PubMed Web of Science ®Google Scholar
• Wallace DC. 2013. A mitochondrial bioenergetic etiology of disease. J Clin Invest. 123:1405–1412.
   PubMed Web of Science ®Google Scholar
• Wang Z, Qi XK, Yao S, Chen B, Luan X, Zhang W, Han M, Yuan Y. 2010. Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case. Neuropathology. 30:606–614.
   PubMed Web of Science ®Google Scholar
• Wishart DS, Jewison T, Guo AC, Wilson M, Knox C, Liu Y, Djoumbou Y, Mandal R, Aziat F, Dong E, et al. 2013. HMDB 3.0 – the human metabolome database in 2013. Nucleic Acids Res. 41:D801–D807.
   PubMed Web of Science ®Google Scholar
• Wortmann S, Mayr J, Nuoffer J, Prokisch H, Sperl W. 2017. A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era. Neuropediatrics. 48:309–314.
   PubMed Web of Science ®Google Scholar