Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Katherine R SchonRita HorvathWei WeiClaudia CalabreseArianna TucciKristina IbañezThiloka RatnaikeRobert D S PitceathlyEnrico BugiardiniRosaline QuinlivanMichael G HannaEmma ClementEmma AshtonJohn A SayerPaul BrennanDragana JosifovaLouise IzattCarl FratterVictoria NesbittTimothy BarrettDominic J McMullenAudrey SmithCharulata DeshpandeSarah F SmithsonRichard FestensteinNatalie CanhamMark CaulfieldHenry HouldenShamima RahmanPatrick F Chinnerynull nullPublished in: BMJ (Clinical research ed.) (2021)
Whole genome sequencing is a useful diagnostic test in patients with suspected mitochondrial disorders, yielding a diagnosis in a further 31% after exclusion of common causes. Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic encephalopathies, other metabolic disorders, cardiomyopathies, and leukodystrophies. These would have been missed if a targeted approach was taken, and some have specific treatments.