Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report

Pearson HA, Lobel JS, Kocoshis SA, et al: A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 95:976–984. 1979. View Article : Google Scholar : PubMed/NCBI

Rötig A, Cormier V, Blanche S, et al: Pearson’s marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest. 86:1601–1608. 1990. View Article : Google Scholar

Holt IJ, Harding AE and Morgan-Hughes JA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:717–719. 1988. View Article : Google Scholar : PubMed/NCBI

McShane MA, Hammans SR, Sweeney M, et al: Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet. 48:39–42. 1991.PubMed/NCBI

Rötig A, Bourgeron T, Chretien D, Rustin P and Munnich A: Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. 4:1327–1330. 1995. View Article : Google Scholar : PubMed/NCBI

Blaw ME and Mize CE: Juvenile Pearson syndrome. J Child Neurol. 5:187–190. 1990. View Article : Google Scholar : PubMed/NCBI

Rotig A, Colonna M, Bonnefont JP, et al: Mitochondrial DNA deletion in Pearson’s marrow/pancreas syndrome. Lancet. 1:902–903. 1989. View Article : Google Scholar : PubMed/NCBI

van den Ouweland JM, de Klerk JB, van de Corput MP, et al: Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. Eur J Hum Genet. 8:195–203. 2000. View Article : Google Scholar : PubMed/NCBI

Santorelli FM, Barmada MA, Pons R, Zhang LL and DiMauro S: Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. Neurology. 47:1320–1323. 1996. View Article : Google Scholar : PubMed/NCBI

Ayed IB, Chamkha I, Mkaouar-Rebai E, et al: A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. Biochem Biophys Res Commun. 411:381–386. 2011. View Article : Google Scholar : PubMed/NCBI

Sievers F, Wilm A, Dineen D, et al: Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol Syst Biol. 7:5392011. View Article : Google Scholar : PubMed/NCBI

Schapira AH: Primary and secondary defects of the mitochondrial respiratory chain. J Inherit Metab Dis. 25:207–214. 2002. View Article : Google Scholar : PubMed/NCBI

Gibson KM, Bennett MJ, Mize CE, et al: 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr. 121:940–942. 1992. View Article : Google Scholar : PubMed/NCBI

Kleinle S, Wiesmann U, Superti-Furga A, et al: Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. Hum Genet. 100:643–650. 1997. View Article : Google Scholar : PubMed/NCBI

Wallace DC, Shoffner JM, Trounce I, et al: Mitochondrial DNA mutations in human degenerative diseases and aging. Biochim Biophys Acta. 1271:141–151. 1995. View Article : Google Scholar : PubMed/NCBI

Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M and DiMauro S: A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science. 244:346–349. 1989. View Article : Google Scholar : PubMed/NCBI

Harding AE and Hammans SR: Deletions of the mitochondrial genome. J Inherit Metab Dis. 15:480–486. 1992. View Article : Google Scholar : PubMed/NCBI

Binder V, Steenpass L, Laws HJ, Ruebo J and Borkhardt A: A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression? J Pediatr Hematol Oncol. 34:283–292. 2012. View Article : Google Scholar : PubMed/NCBI

Limongelli A, Schaefer J, Jackson S, et al: Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J Med Genet. 41:342–349. 2004. View Article : Google Scholar : PubMed/NCBI

Seneca S, De Meirleir L, De Schepper J, et al: Pearson marrow pancreas syndrome: a molecular study and clinical management. Clin Genet. 51:338–342. 1997. View Article : Google Scholar : PubMed/NCBI

Faraci M, Cuzzubbo D, Micalizzi C, et al: Allogeneic bone marrow transplantation for Pearson’s syndrome. Bone Marrow Transplant. 39:563–565. 2007. View Article : Google Scholar : PubMed/NCBI

Hoyoux C, Dresse MF, Robinet S, et al: Cord blood transplantation in a child with Pearson’s disease. Pediatr Blood Cancer. 51:5662008. View Article : Google Scholar