A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.
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.
Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University, School of Medicine, İzmir, Turkey ulyis@yahoo.com.
Uluç
U
Yiş
Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Gazi University, School of Medicine, Ankara, Turkey.
Fatih Süheyl
FS
Ezgü
Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University, School of Medicine, İzmir, Turkey.
Pakize
P
Karakaya
Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University, School of Medicine, İzmir, Turkey.
İpek
İ
Polat
Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylül University, School of Medicine, Ankara, Turkey.
Nur
N
Arslan
Department of Pediatrics, Division of Genetics, Dokuz Eylül University, School of Medicine, Ankara, Turkey.
Tufan
T
Çankaya
Department of Pediatrics, Division of Genetics, Dokuz Eylül University, School of Medicine, Ankara, Turkey.
Özlem Giray
ÖG
Bozkaya
Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University, School of Medicine, İzmir, Turkey.
Semra Hız
SH
Kurul
D045303:Cytochromes b / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000235:genetics*
D004272:DNA, Mitochondrial; D045303:Cytochromes b
Prader-Willi syndrome; mitochondria disease; mitochondrial cytochrome b gene