title: A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?
abstract: Because of the diversity of clinical symptoms, the diagnosis of mitochondrial DNA (mtDNA) deletion disorders can be difficult. Here, we describe an 8-month-old boy presenting clinically exclusively with refractory anemia. Mutation analysis in our patient revealed a large, novel deletion in his mtDNA encompassing ATPase 6, cytochrome oxidase subunit III, NADH dehydrogenase genes ND3 to ND6, and cytochrome b. Comparison with other cases from the literature showed that there is no genotype-phenotype correlation regarding hematologic features. It is not possible to predict whether our patient will develop additional features from Pearson syndrome or Kearns-Sayre syndrome, both syndromic mitochondrial disorders with hematological manifestations.
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany. vera.binder@med.uni-duesseldorf.de
authors.forename: Vera
authors.initials: V
authors.lastname: Binder
authors.forename: Laura
authors.initials: L
authors.lastname: Steenpass
authors.forename: Hans-Juergen
authors.initials: HJ
authors.lastname: Laws
authors.forename: Jochen
authors.initials: J
authors.lastname: Ruebo
authors.forename: Arndt
authors.initials: A
authors.lastname: Borkhardt
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D000753:Anemia, Refractory / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000235:genetics*; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007223:Infant; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics; D009135:Muscular Diseases; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D044942:Acyl-CoA Dehydrogenase, Long-Chain