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

  • Yiş U
  • Ezgü F
  • Karakaya P
 et al. 
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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.

Author-supplied keywords

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

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  • Uluç Yiş

  • Fatih Süheyl Ezgü

  • Pakize Karakaya

  • İpek Polat

  • Nur Arslan

  • Tufan Çankaya

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