PMC8497038_01
Representative images of light microscopy and transmission electron microscopy (TEM) from the kidney biopsies of the elder sister at age 12 (A,B) and the younger brother at age 8 (C,D). (A) Global or segmental glomerulosclerosis (arrow) in 23 of 38 glomeruli (Periodic Acid-Schiff staining. Scale bar: 50 mum). Immunofluorescence microscopy revealed negative for IgG, IgA, IgM, C3, C1q, kappa light chain, and lambda light chain in 2 glomeruli. (B) Representative TEM showed diffuse foot process effacement of the podocyte (arrow), partial irregularity of the glomerular basement membrane, foam cells, and no subendothelial and mesangial dense deposits (Scale bar: 1 mum). (C) Global or segmental glomerulosclerosis (arrow) in 7 of 33 glomeruli (Periodic Acid-Schiff staining. Scale bar: 50 mum). Immunofluorescence microscopy revealed mesangial IgM deposits (++) negative and negative results for IgG, IgA, C3, C1q, kappa light chain, and lambda light chain in 2 glomeruli. (D) Representative TEM showed diffuse foot process effacement of the podocyte (arrow), partial irregularity of the glomerular basement membrane, foam cells, and no subendothelial and mesangial dense deposits (Scale bar: 1 mum).
fped-09-692727-g0001.jpg
PMC8497038_02_fped-09-692727-g0001.jpg
F1
The renal biopsy of the patient at the age of 8 years old was carried out revealing FSGS (Figures 1C,D).
PMC8497038_02
Representative images of light microscopy and transmission electron microscopy (TEM) from the kidney biopsies of the elder sister at age 12 (A,B) and the younger brother at age 8 (C,D). (A) Global or segmental glomerulosclerosis (arrow) in 23 of 38 glomeruli (Periodic Acid-Schiff staining. Scale bar: 50 mum). Immunofluorescence microscopy revealed negative for IgG, IgA, IgM, C3, C1q, kappa light chain, and lambda light chain in 2 glomeruli. (B) Representative TEM showed diffuse foot process effacement of the podocyte (arrow), partial irregularity of the glomerular basement membrane, foam cells, and no subendothelial and mesangial dense deposits (Scale bar: 1 mum). (C) Global or segmental glomerulosclerosis (arrow) in 7 of 33 glomeruli (Periodic Acid-Schiff staining. Scale bar: 50 mum). Immunofluorescence microscopy revealed mesangial IgM deposits (++) negative and negative results for IgG, IgA, C3, C1q, kappa light chain, and lambda light chain in 2 glomeruli. (D) Representative TEM showed diffuse foot process effacement of the podocyte (arrow), partial irregularity of the glomerular basement membrane, foam cells, and no subendothelial and mesangial dense deposits (Scale bar: 1 mum).
fped-09-692727-g0001.jpg
PMC8497038_02_fped-09-692727-g0001.jpg
F1
The renal biopsy of the patient at the age of 8 years old was carried out revealing FSGS (Figures 1C,D).
A novel missense mutation in exon 5 (A593C) of the NPHS2 gene was identified by Trio whole-exome sequencing in the affected individuals and family members. (A) normal control sequence. The affected elder sister (B) and the affected younger brother (C) carried the homozygous missense mutation in exon 5 (A593C) of the NPHS2 gene. The father (D) and the mother (E) of the affected patients revealed the heterozygous missense mutation in exon 5 (A593C) of the NPHS2 gene. The arrows indicate mutant positions.
fped-09-692727-g0002.jpg
PMC8497038_02_fped-09-692727-g0002.jpg
F2
Novel missense mutation variants identified in this study were shown in Figure 2.