PMC8295552_01
(A) The pedigree of the family. (B) Brain MR images at 5-, and 18-months of age. (a-d) show that the ventricles of the brain and the left lateral fissure were widened on T1WI, T2WI, FLAIR and DWI sequences at 5-months of age. (e-h) disclose symmetrical hyperintensity in the bilateral basal ganglia on T2WI, FLAIR, and DWI sequences at 18-months of age. (C) Electropherograms of the regions containing the DNM1L variant identified in genomic DNA from the patient. (D) The conservation of the identified amino acid across different species. (E,F) The protein 3D modeling for the DNM1L-wild and identified missense variant. (G) The schematic chart and the locations of identified variants in DRP1. (H) The survival curve of patients of the GTPase domain group and the middle domain group of DRP1.
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F1
The pedigree of the family was as follows (Figure 1A). Magnetic resonance imaging (MRI) showed ventricular broadening and left lateral fissure widening in 2017. 1 year later, MRI revealed symmetric hyperintensity in the bilateral basal ganglia on T2-weighted imaging, T2-FLAIR, and DWI sequences (Figure 1B). Furthermore, gene variation was validated using Sanger sequencing (Figure 1C). The conservation of the identified amino acid across different species and the protein 3D modeling for the DNM1L-wild and identified missense variant were shown in Figures 1D-F. However, there was no statistically significant difference in the survival rate in the different domain groups (log-rank test, P = 0.39, Figure 1H).