Cited by 135Mitochondrial Function and PathologyMetabolism and Genetic DisordersGenomics and Rare Diseases

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

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Care4Rare Consortium, Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, Lines, Matthew A·2016·European Journal of Human Genetics

DOI 10.1038/ejhg.2015.243PMC PMC5070894

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Abstract

Mitochondrial fission and fusion are dynamic processes vital to mitochondrial quality control and the maintenance of cellular respiration. In dividing mitochondria, membrane scission is accomplished by a dynamin-related GTPase, DNM1L, that oligomerizes at the site of fission and constricts in a GTP-dependent manner. There is only a single previous report of DNM1L-related clinical disease: a female neonate with encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF; OMIM #614388), a lethal disorder characterized by cerebral dysgenesis, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. Here, we describe a second individual, diagnosed via whole-exome sequencing, who presented with developmental delay, refractory epilepsy, prolonged survival, and no evidence of mitochondrial or peroxisomal dysfunction on standard screening investigations in blood and urine. EEG was nonspecific, showing background slowing with frequent epileptiform activity at the frontal and central head regions. Electron microscopy of skeletal muscle showed subtle, nonspecific abnormalities of cristal organization, and confocal microscopy of patient fibroblasts showed striking hyperfusion of the mitochondrial network. A panel of further bioenergetic studies in patient fibroblasts showed no significant differences versus controls. The proband's de novo DNM1L variant, NM_012062.4:c.1085G>A; NP_036192.2:p.(Gly362Asp), falls within the middle (oligomerization) domain of DNM1L, implying a likely dominant-negative mechanism. This disorder, which presents nonspecifically and affords few diagnostic clues, can be diagnosed by means of DNM1L sequencing and/or confocal microscopy.

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Authors: Care4Rare Consortium, Vanstone, J. R., Smith, A. M., McBride, S., Naas, T., Holcik, M., Antoun, G., Harper, M.-E., Michaud, J., Sell, E., Chakraborty, P., Tetreault, M., Majewski, J., Baird, S., Boycott, K. M., Dyment, D. A., MacKenzie, A., & Lines, M. A.
Affiliations: University of Ottawa (CA)
McGill University and Génome Québec Innovation Centre (CA)
Corresponding author: Lines, Matthew A
ORCID: Vanstone, Jason R
Harper, Mary-Ellen
Sell, Erick
Chakraborty, Pranesh
Majewski, Jacek
Baird, Stephen
Boycott, Kym M
Dyment, David A
MacKenzie, Alex
Lines, Matthew A
Venue: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2015-11-25
Volume: 24
Issue: 7
Pages: 1084-1088
ISSN: 1018-4813 (ISSN-L)
1476-5438
DOI: 10.1038/ejhg.2015.243
PMC: PMC5070894
OpenAlex: W2337169310
Cited by: 135
References: 18
Citations by year: 2026: 5 · 2025: 10 · 2024: 9 · 2023: 5 · 2022: 11 · 2021: 25 · 2020: 17 · 2019: 14 · 2018: 17 · 2017: 12 · 2016: 10
FWCI: 5.65
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: European Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Genome Canada
Canadian Institutes of Health Research (MOP57810)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: Drp1, mitochondrial fission, drug-resistant epilepsy, developmental delay, de novo mutations, dominant-negative mechanism, mitochondrial hyperfusion, mitochondrial quality control, dynamin-related GTPase, mitochondrial fusion, mitochondrial encephalopathy
MeSH terms: Drug Resistant Epilepsy, Cells, Cultured, Child, Developmental Disabilities, Fibroblasts, Humans, Male, Microtubule-Associated Proteins, Mitochondria, Muscle, Syndrome, Muscle, Skeletal, Mutation, Missense, GTP Phosphohydrolases, Mitochondrial Proteins, Dynamins, Exome, Mitochondrial Dynamics

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

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