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

Park,Joonhong; Ryu,Hyejin; Jang,Woori; Chae,Hyojin; Kim,Myungshin; Kim,Yonggoo; Kim,Jiyeon; Lee,Jae  Wook; Chung,Nack‑Gyun; Cho,Bin; Suh,Byung  Kyu

doi:10.3892/mmr.2014.3127

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

Authors:
- Joonhong Park
- Hyejin Ryu
- Woori Jang
- Hyojin Chae
- Myungshin Kim
- Yonggoo Kim
- Jiyeon Kim
- Jae Wook Lee
- Nack‑Gyun Chung
- Bin Cho
- Byung Kyu Suh
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Affiliations: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea, Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea, Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 137‑701, Republic of Korea
Published online on: December 22, 2014 https://doi.org/10.3892/mmr.2014.3127
Pages: 3741-3745

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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.

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