A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Affiliations

• ¹ Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
• ² Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
• ³ Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, Victoria, Australia.
• ⁴ Department of Biochemistry and Molecular Biology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.
• ⁵ Department of Molecular Biology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts.
• ⁶ Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.
• ⁷ Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
• ⁸ Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia.
• ⁹ Mitochondrial Medicine and Biology, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
• ¹⁰ Department of Neurology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
• ¹¹ Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
• ¹² Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.