A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome. (March 2015)

• Record Type: Journal Article
• Authors: Yiş, Uluç; Ezgü, Fatih Süheyl; Karakaya, Pakize; Polat, İpek; Arslan, Nur; Çankaya, Tufan; Bozkaya, Özlem Giray; Kurul, Semra Hız
• Is Part Of: Journal of child neurology. Volume 30:Number 3(2015:Mar.)
• Page Start: 378
• Page End: 381
• Publication Date: 2015-03
• Subjects: Prader-Willi syndrome -- mitochondria disease -- mitochondrial cytochrome b gene; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073814530499
• Languages: English
• ISSNs: 0883-0738

Abstract

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.