title: Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
abstract: We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address: grace.yoon@utoronto.ca.
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
authors.affiliation: Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Zeenat
authors.initials: Z
authors.lastname: Malam
authors.affiliation: Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Tara
authors.initials: T
authors.lastname: Paton
authors.affiliation: Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.affiliation: Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Ella
authors.initials: E
authors.lastname: Hyatt
authors.affiliation: Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Zhenya
authors.initials: Z
authors.lastname: Ivakine
authors.affiliation: Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.affiliation: Division of Neonatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Kyong-Soon
authors.initials: KS
authors.lastname: Lee
authors.affiliation: Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Hawkins
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Ronald D
authors.initials: RD
authors.lastname: Cohn
mesh_terms: D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D034281:Dynamins; D059472:Exome; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D000080865:Formins; D020558:GTP Phosphohydrolases / Q000172:deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D008856:Microscopy, Fluorescence; D008869:Microtubule-Associated Proteins / Q000172:deficiency / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000235:genetics*; D063154:Mitochondrial Dynamics; D024101:Mitochondrial Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D018389:Codon, Nonsense; D000080865:Formins; C546959:INF2 protein, human; D008840:Microfilament Proteins; D008869:Microtubule-Associated Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C110768:DNM1L protein, human; D034281:Dynamins