A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome

J Child Neurol. 2015 Mar;30(3):378-81. doi: 10.1177/0883073814530499. Epub 2014 Apr 25.


In recent years, it has been suggested that defects in energy metabolism may accompany Prader Willi syndrome. Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. The authors describe a novel mutation (mt. 15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi syndrome with a clinical history of lactic acidosis attacks, renal sodium loss, hepatopathy, progressive cerebral atrophy, and sudden death. The authors suggest that atypical clinical findings in patients with Prader-Willi syndrome should direct the physician to search for a mitochondrial disease.

Keywords: Prader-Willi syndrome; mitochondria disease; mitochondrial cytochrome b gene.

Publication types

  • Case Reports

MeSH terms

  • Cytochromes b / genetics*
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Infant
  • Mutation / genetics*
  • Prader-Willi Syndrome / genetics*


  • DNA, Mitochondrial
  • Cytochromes b