Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Authors :: Yoon, Grace
Malam, Zeenat
Paton, Tara
Marshall, Christian R.
Hyatt, Ella
Ivakine, Zhenya
Scherer, Stephen W.
Lee, Kyong-Soon
Hawkins, Cynthia
Cohn, Ronald D.
Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee
Source :: Journal of Pediatrics; Apr2016, Vol. 171, p313-316.e2, 1p
Publication Year :: 2016
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. [ABSTRACT FROM AUTHOR]