title: Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Hanan E
authors.initials: HE
authors.lastname: Shamseldin
authors.forename: Muneera
authors.initials: M
authors.lastname: Alshammari
authors.forename: Tarfa
authors.initials: T
authors.lastname: Al-Sheddi
authors.forename: Mustafa A
authors.initials: MA
authors.lastname: Salih
authors.forename: Hisham
authors.initials: H
authors.lastname: Alkhalidi
authors.forename: Amal
authors.initials: A
authors.lastname: Kentab
authors.forename: Gabriela M
authors.initials: GM
authors.lastname: Repetto
authors.forename: Mais
authors.initials: M
authors.lastname: Hashem
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D001921:Brain / Q000473:pathology; D003241:Consanguinity; D059472:Exome; D005260:Female; D023281:Genomics; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008928:Mitochondria / Q000473:pathology / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000473:pathology; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: D008565:Membrane Proteins; C533267:Mff protein, human; D024101:Mitochondrial Proteins