Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy

encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several heterozygous missense mutations in have been reported, which were characterized by devastating courses with refractory epilepsy, my...

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Bibliographic Details
Published in:Frontiers in pediatrics 2021-02, Vol.9, p.604105
Main Authors: Wei, Yanping, Qian, Min
Format: Article
Language:English
Subjects:
DNM1L
dynamin-related protein 1
MRI
mutation
Pediatrics
peripheral neuropathy
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Summary:encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several heterozygous missense mutations in have been reported, which were characterized by devastating courses with refractory epilepsy, myoclonus, and brain atrophy on MRI. We describe a 4.5-year-old male child harboring a novel mutation in presenting a phenotype of developmental delay, ataxia, and peripheral neuropathy. The clinical features, magnetic resonance imaging findings, and genetic results were summarized. Meanwhile, all the cases of mutations reported were reviewed. variants may need to be considered in phenotypes that include global developmental delay, peripheral neuropathy, and ataxia.
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2021.604105