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

Area of Science:

• Genetics
• Molecular Biology
• Pediatrics

Background:

• Pearson marrow-pancreas syndrome (PS) is a severe, progressive multi-organ disorder.
• It results from deletions and duplications in mitochondrial DNA (mtDNA).
• PS is often fatal in infancy, commonly due to septicemia, metabolic acidosis, or liver failure.

Observation:

• A four-month-old infant presented with severe normocytic normochromic anemia.
• The infant also showed vacuolization of hematopoietic precursors and metabolic acidosis.
• These clinical findings prompted an extensive investigation.

Findings:

• Molecular analysis confirmed Pearson marrow-pancreas syndrome (PS).
• A novel, large-scale (5.712 kb) deletion in the mitochondrial DNA (mtDNA) was identified.
• This deletion spanned nucleotides 8,011 to 13,722 and lacked direct repeats at its boundaries.
• This represents the first reported case of PS in South Korea.

Implications:

• This case expands the known spectrum of mtDNA mutations causing PS.
• It highlights the importance of molecular analysis for diagnosing PS.
• The findings contribute to understanding PS pathogenesis and genetic diversity in different populations.