Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
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ABSTRACT:
SUBMITTER: Dinwiddie DL
PROVIDER: S-EPMC4557607 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Publications
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Dinwiddie Darrell L DL Smith Laurie D LD Miller Neil A NA Atherton Andrea M AM Farrow Emily G EG Strenk Meghan E ME Soden Sarah E SE Saunders Carol J CJ Kingsmore Stephen F SF Kingsmore Stephen F SF
Genomics 20130428 3
Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings w ...[more]
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