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.

[1]  E. Hoffman,et al.  Differential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader–Willi Syndrome , 2013, Clinical and translational science.

[2]  J. Ganesh,et al.  A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome , 2013, Journal of child neurology.

[3]  D. J. Driscoll,et al.  Prader-Willi syndrome. , 1984, Current problems in pediatrics.

[4]  V. Procaccio,et al.  A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene. , 2009, Mitochondrion.

[5]  R. Frye.  15q11.2-13 Duplication, Mitochondrial Dysfunction, and Developmental Disorders , 2009, Journal of child neurology.

[6]  D. J. Driscoll,et al.  Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus , 2005, Nucleic acids research.

[7]  N. Niikawa,et al.  Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment , 2005, American journal of medical genetics. Part A.

[8]  R. Scarpulla,et al.  Control of Mitochondrial Transcription Specificity Factors (TFB1M and TFB2M) by Nuclear Respiratory Factors (NRF-1 and NRF-2) and PGC-1 Family Coactivators , 2005, Molecular and Cellular Biology.

[9]  M. Sacco,et al.  Sudden Death in Prader-Willi Syndrome during Growth Hormone Therapy , 2005, Hormone Research in Paediatrics.

[10]  C. Deal,et al.  Sudden death in growth hormone-treated children with Prader-Willi syndrome. , 2004, The Journal of pediatrics.

[11]  Jenifer Juranek,et al.  Mitochondrial dysfunction in autistic patients with 15q inverted duplication , 2003, Annals of neurology.

[12]  M. Schuelke,et al.  Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation , 2002, Annals of neurology.

[13]  T. Rosenberg,et al.  Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene , 2001, Annals of neurology.

[14]  P. Laforêt,et al.  Functional characterization of novel mutations in the human cytochrome b gene , 2001, European Journal of Human Genetics.

[15]  A. Munnich,et al.  A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency , 1999, Human Genetics.

[16]  I. D. de Coo,et al.  A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome , 1999, Annals of neurology.