Journal article
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, A Laskowski, C Garone, S Liu, DB Jaffe, J Christodoulou, JM Fletcher, DL Bruno, J Goldblatt, S DiMauro, DR Thorburn, VK Mootha
Science Translational Medicine | AMER ASSOC ADVANCEMENT SCIENCE | Published : 2012
Abstract
Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited disorders. Although in research settings NGS has pinpointed causal alleles using segregation in large families, the key challenge for clinical diagnosis is application to single individuals. To explore its diagnostic use, we performed targeted NGS in 42 unrelated infants with clinical and biochemical evidence of mitochondrial oxidative phosphorylation disease. These devastating mitochondrial disorders are characterized by phenotypic and genetic heterogeneity, with more than 100 causal genes identified to date. We performed "MitoExome" sequencing of the mitochondrial DNA (mtDNA) and exons of ∼1000 nuclea..
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Awarded by National Human Genome Research Institute
Funding Acknowledgements
Funding: Supported by grants from the NIH (R01GM077465 and 1R01GM097136 to V. K. M.; HD32062 to S. D.), a grant and Principal Research Fellowship from the Australian National Health and Medical Research Council (436901 and 436906 to D. R. T.), a National Defense Science and Engineering Graduate fellowship (S. G. H.), a Melbourne Research Scholarship (S. C. L.), an Australian Postgraduate Award (E.J.T.), the Marriott Mitochondrial Disorders Clinical Research Fund (S. D.), and the Victorian Government's Operational Infrastructure Support Program (D.R.T.).