title: Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report.
abstract: Pearson marrow‑pancreas syndrome (PS) is a progressive multi‑organ disorder caused by deletions and duplications of mitochondrial DNA (mtDNA). PS is often fatal in infancy, and the majority of patients with PS succumb to the disease before reaching three‑years‑of‑age, due to septicemia, metabolic acidosis or hepatocellular insufficiency. The present report describes the case of a four‑month‑old infant with severe normocytic normochromic anemia, vacuolization of hematopoietic precursors and metabolic acidosis. After extensive clinical investigation, the patient was diagnosed with PS, which was confirmed by molecular analysis of mtDNA. The molecular analysis detected a novel large‑scale (5.712 kb) deletion spanning nucleotides 8,011 to 13,722 of mtDNA, which lacked direct repeats at the deletion boundaries. The present report is, to the best of our knowledge, the first case reported in South Korea.
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Joonhong
authors.initials: J
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Hyejin
authors.initials: H
authors.lastname: Ryu
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Woori
authors.initials: W
authors.lastname: Jang
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Hyojin
authors.initials: H
authors.lastname: Chae
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
authors.affiliation: Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Jiyeon
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Jae Wook
authors.initials: JW
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Nack-Gyun
authors.initials: NG
authors.lastname: Chung
authors.affiliation: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Bin
authors.initials: B
authors.lastname: Cho
authors.affiliation: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea.
authors.forename: Byung Kyu
authors.initials: BK
authors.lastname: Suh
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D000080984:Congenital Bone Marrow Failure Syndromes; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D044942:Acyl-CoA Dehydrogenase, Long-Chain