case_images: PMC11035736_01
case_images: PMC11035736_02
case_images: Brain MRI of the described case. (A) Axial T2 and (B) sagittal T1 brain MRI images of this patient, at an age of 22 years. Image A shows a compressed left hippocampus. Image B shows no cerebellar atrophy. MRI, magnetic resonance imaging; FLAIR, fluid-attenuated inversion recovery.
case_images: fgene-15-1373448-g001.jpg
case_images: PMC11035736_02_fgene-15-1373448-g001.jpg
case_images: F1
case_images: A choroid plexus cyst and compression of the left hippocampus were considered ( Figure 1).
case_images: De novo heterozygous variants of NUS1 (c.750del) in our patient.
case_images: fgene-15-1373448-g002.jpg
case_images: PMC11035736_02_fgene-15-1373448-g002.jpg
case_images: F2
case_images: WES and mitochondrial genetic tests to identify the causal gene. WES results revealed a de novo variant of NUS1 (c.750del) (Figure 2) and a novel variant of UBTF (c.2026-3A>G) (Figure 3).
case_images: A novel variant c.2026-3A>G of UBTF in our patient.
case_images: fgene-15-1373448-g003.jpg
case_images: PMC11035736_02_fgene-15-1373448-g003.jpg
case_images: F3
case_images: WES and mitochondrial genetic tests to identify the causal gene. WES results revealed a de novo variant of NUS1 (c.750del) (Figure 2) and a novel variant of UBTF (c.2026-3A>G) (Figure 3).