case_images: PMC10601869_01
case_images: a Pedigree of a patient with a likely pathogenic homozygous LAGE3 variant, c.290T>G (p.L97R), while his mother is a healthy heterozygous carrier, and his father has no mutation. Our patient also has a mutation of the TRPC6 gene (c.2206-6G>A), and the NUP160 gene (c.562A>G). b H&E staining of renal puncture tissue suggests focal segmental glomerulosclerosis. c Transmission electron microscopy (TEM) showing podocyte foot process effacement. d MRI showing polymicrogyria and diffuse cerebellar atrophy.
case_images: cnd-2023-0013-0001-533580_F01.jpg
case_images: PMC10601869_01_cnd-2023-0013-0001-533580_F01.jpg
case_images: F1
case_images: Brain MRI showed extensive symmetrical abnormal signaling in the white matter with brain atrophy (significant atrophy of the cerebellar hemispheres) (Fig. 1d). H&E staining of renal puncture tissue suggested FSGS (Fig. 1b). Under electron microscope, the thickness of the glomerular basement membrane was ~120-280 nm, and the foot processes were diffusely fused, with microvilli degeneration, and a small amount of electron dense deposits were seen in individual mesangial areas (Fig. 1c). TRPC6 gene (c.2206-6G>A), and the NUP160 gene (c.562A>G) were detected. The patient's mother was also a heterozygote for the TRPC6 variant (Fig. 1a).