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

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.