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Case Reports
. 2021 Feb 26:9:604105.
doi: 10.3389/fped.2021.604105. eCollection 2021.

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

Yanping Wei  1 , Min Qian  1
Affiliations
Case Reports

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

Yanping Wei et al. Front Pediatr. .

Abstract

DNM1L 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 de novo heterozygous missense mutations in DNM1L 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 de novo mutation in DNM1L 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 DNM1L mutations reported were reviewed. DNM1L variants may need to be considered in phenotypes that include global developmental delay, peripheral neuropathy, and ataxia.

Keywords: DNM1L; MRI; dynamin-related protein 1; mutation; peripheral neuropathy.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Brain magnetic resonance imaging (MRI) findings. (A) Bilateral symmetrical hyperintense lesions of periventricular white matter on T2-weighted images. (B) Thinning of the corpus callosum from sagittal view shown on axial T1-weighted images.
Figure 2
Figure 2
Structure-based domain architecture of human DNM1L. The first and last residue of each domain are labeled. The classical predicted domain assignments including the G domain, middle assembly domain (MSD), B domain, and the GTPase effector domain (GED) are shown below. The mutation p.G149R was located at the G domain (black arrow).
Figure 3
Figure 3
Crystal structure of DNM1L in ribbon representation (pdb code 4BEJ). The identified mutation site in the nucleotide-binding cleft is indicated.
See this image and copyright information in PMC

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