2. Academic Validation
  3. Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

  • J Pediatr. 2016 Apr;171:313-6.e1-2. doi: 10.1016/j.jpeds.2015.12.060.
Grace Yoon 1,  Zeenat Malam 2,  Tara Paton 3,  Christian R Marshall 3,  Ella Hyatt 2,  Zhenya Ivakine 2,  Stephen W Scherer 3,  Kyong-Soon Lee 4,  Cynthia Hawkins 5,  Ronald D Cohn 6,  Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee
Affiliations

Affiliations

  • 1 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: [email protected].
  • 2 Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • 3 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.
  • 4 Division of Neonatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 5 Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 6 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.
PMID: 26825290 DOI: 10.1016/j.jpeds.2015.12.060
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.

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