English

DNM1L

Gene product: dynamin-related protein 1.

Protein function: It is a member of the dynamin superfamily of GTPases, which can mediates mitochondrial and peroxisomal division, and is involved in apoptosis and programmed necrosis.

Phenotype: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (AD，AR) (some may be characterized by epileptic encephalopathy, some may have myoclonus and fever sensitivity) [1-8]；Optic atrophy 5 (AD) [9]。

Mutation database: ClinVar。

Clinical and basic research: PubMed (PMID: 26604000 (Eur J Hum Genet. 2016); 27145208 (Am J Med Genet A. 2016); 28667181 (Neurology. 2017); 30109270 (Neurol Genet. 2018); 33718295 (Front Pediatr. 2021); 34307245 (Front Pediatr. 2021)).

 

 

References:

  1. Waterham, H.R., et al., A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med, 2007. 356(17): p. 1736-41.
  2. Sheffer, R., et al., Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. Am J Med Genet A, 2016. 170(6): p. 1603-7.
  3. Vanstone, J.R., et al., DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. Eur J Hum Genet, 2016. 24(7): p. 1084-8.
  4. Fahrner, J.A., et al., A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. Am J Med Genet A, 2016. 170(8): p. 2002-11.
  5. von Spiczak, S., et al., DNM1 encephalopathy: A new disease of vesicle fission. Neurology, 2017. 89(4): p. 385-394.
  6. Ladds, E., et al., De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity. Neurol Genet, 2018. 4(4): p. e258.
  7. Wei, Y. and M. Qian, Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy. Front Pediatr, 2021. 9: p. 604105.
  8. Liu, X., et al., DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review. Front Pediatr, 2021. 9: p. 626657.
  9. Gerber, S., et al., Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. Brain, 2017. 140(10): p. 2586-2596.