case_images: PMC11826236_01
case_images: The patient s pedigree chart, including third-degree relatives that did not document history of kidney disease at the time of the study.
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case_images: No significant familial background of kidney disease was documented, and the patient had three healthy paternal siblings ( Figure 1 ). The examination performed by IF resulted negative after incubation with specific antibodies against heavy chains of IgA, IgG, and IgM, light chains Kappa and Lambda, complement factors C3c, C4, and C1q, as well as Albumin and Fibrinogen ( Supplementary Figure 1 ).
case_images: Histological findings in kidney biopsy revealed focal and segmental glomerulosclerosis. (A) Hematoxylin and eosin stain, 200x magnification. (B) Periodic acid-Schiff stain, 200x magnification.
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case_images: The biopsy specimen in LM comprised 18 glomeruli, with 8 of them globally and 2 segmentally sclerosed ( Figures 2A, B ).
case_images: The sequence surrounding the position of the ACTN4 variant identified in the patient, was aligned with Homo sapiens (human), Macaco mulatta (monkey), Mus musculus (mouse), Sus scrofa (pig), Bos taurus (cow), Gallus gallus (chicken), Xenopus tropicalis (frog) and Danio rerio. The predicted deletion in ACTN4 of the 3 amino acids, L209, I210 and E211, is highlighted in the black box.
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case_images: The analysis by a multiple sequence alignment program (Clustal Omega (https://www.ebi.ac.uk/Tools/msa/clustalo/) showed that the ACTN4 p.L209_E211del variant was located within the CH2 domain in a highly conserved sequence across vertebrate species ( Figure 3 ).