case_images: PMC11272558_01
case_images: Family pedigree and variant analysis of the COL4A3 gene. (A) The full-shaded icon denotes end-stage renal disease; half-shaded icons denote individuals with microscopic hematuria and proteinuria but with normal renal function. The pound sign (#) indicates the individual with the COL4A3 c.2990G>A (p.Gly997Glu) variant. The asterisk (*) indicates the individual with the COL4A3 c.4981C>T (p.Arg1661Cys) variant. TBMN indicates the individuals whose renal pathological findings reveal uniform thinning of the glomerular basement membrane. (B) The proband's father and patrilineal relatives who underwent genetic testing were detected to have a heterozygous variant c.2990G>A. (C) The proband's mother was an asymptomatic carrier of heterozygous variant c.4981C>T carrier. (D) The proband harbored a compound heterozygous variant, c.2990G>A and c.4981C>T.
case_images: fgene-15-1426806-g001.jpg
case_images: PMC11272558_01_fgene-15-1426806-g001.jpg
case_images: F1
case_images: Nine affected members of the family, including the proband and her father, presented with symptoms of hematuria and proteinuria (Figure 1A). Among them, four individuals (including the proband's father) underwent a renal biopsy, and all of their pathological findings revealed uniform thinning of the glomerular basement membrane (GBM) (Figure 1A). As shown in Figure 1B, the heterozygous variant, c.2990G>A (NM_000091.5) in exon 36 of the COL4A3 gene, was detected in the proband's father and patrilineal relatives who underwent genetic test (I4, I5, II4, and II5). Another heterozygous missense variant, c.4981C>T (NM_000091.5; p.Arg1661Cys), was identified in exon 52 of the COL4A3 gene in the proband's mother (Figure 1C). The proband inherited both variants from her parents (Figure 1D).