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

作者：Yis Uluc^*; Ezgu Fatih Suheyl; Karakaya Pakize; Polat Ipek; Arslan Nur; Cankaya Tufan; Bozkaya Ozlem Giray; Kurul Semra Hiz

来源：Journal of Child Neurology, 2015, 30(3): 378-381.

DOI：10.1177/0883073814530499

• Prader-Willi syndrome
• mitochondria disease
• mitochondrial cytochrome b gene

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.

• 出版日期2015-3