A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome

YİŞ U., EZGÜ F. S., Karakaya P., Polat I., ARSLAN N., ÇANKAYA T., ...More

JOURNAL OF CHILD NEUROLOGY, vol.30, no.3, pp.378-381, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 3
  • Publication Date: 2015
  • Doi Number: 10.1177/0883073814530499
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.378-381
  • Gazi University Affiliated: Yes


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.