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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
  1. Hanan E Shamseldin1,
  2. Muneera Alshammari1,2,
  3. Tarfa Al-Sheddi1,
  4. Mustafa A Salih2,
  5. Hisham Alkhalidi3,
  6. Amal Kentab2,
  7. Gabriela M Repetto4,
  8. Mais Hashem1,
  9. Fowzan S Alkuraya1,2,5
  1. 1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  2. 2Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  3. 3Department of Pathology, King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  4. 4Centro de Genética Humana, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes, Santiago, Chile
  5. 5Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  1. Correspondence to Dr Fowzan S Alkuraya, Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyad 11211, Saudi Arabia; falkuraya{at}


Objective To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy.

Methods Autozygome was used to highlight candidate genes for direct sequencing in 10 probands, all born to consanguineous parents. Autozygome was also used to filter the variants from exome sequencing of four probands.

Results In addition to revealing mutations in known mitochondrial genes, the analysis revealed the identification of two novel candidate disease genes: MFF and FARS2, encoding the mitochondrial fission factor and phenylalanyl-tRNA synthetase, respectively.

Interpretation These findings expand the repertoire of genes that are mutated in patients with mitochondrial disorders and highlight the value of integrating genomic approaches in the evaluation of these patients.

  • Fission
  • aminoacyl-transfer RNA
  • autozygome
  • exome sequencing
  • genetics

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  • Funding This study was funded in part by KACST grants 08-MED497-20 and 09-MED491-20 (FSA) and Dubai-Harvard Foundation for Medical Research Collaborative Grant (FSA).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval King Faisal Specialist Hospital and Research Center Institutional Review Board.

  • Provenance and peer review Not commissioned; externally peer reviewed.