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Case Reports
. 2016 Apr:171:313-6.e1-2.
doi: 10.1016/j.jpeds.2015.12.060. Epub 2016 Jan 26.

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

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
Collaborators, Affiliations
Case Reports

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Grace Yoon et al. J Pediatr. 2016 Apr.

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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