Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.

Elizabeth M McCormick¹, Kierstin Keller², Julie P Taylor³, Alison J Coffey³, Lishuang Shen⁴, Danuta Krotoski⁵, Brian Harding^6,7, , Xiaowu Gai^4,8, Marni J Falk^1,7, Zarazuela Zolkipli-Cunningham^1,7, Shamima Rahman⁹

¹Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.

²Center for Mitochondrial and Epigenomic Medicine, Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA.

³Illumina Clinical Services Laboratory, Illumina, San Diego, CA.

⁴Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA.

⁵Intellectual and Developmental Disabilities Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

⁶Department of Pathology and Laboratory Medicine (Neuropathology), Children's Hospital of Philadelphia, Philadelphia, PA.

⁷University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

⁸Keck School of Medicine, University of Southern California, Los Angeles, CA.

⁹Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, and Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

PubMed PMC DOI PDF

Abstract

OBJECTIVE: Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manifestation of PMD in children, but may also present in adults. A major challenge for accurate diagnosis of LSS in the genomic medicine er…

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