Novel COL4A3 synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman: A case report

Figure 1 Family pedigrees. The proband and her son were heterozygous for the novel disease-causing variant. One of the proband’s brothers was diagnosed with renal failure in December 2021 whose son has been undergoing hemodialysis for many years.

Figure 2 Findings of the proband’s renal biopsy. A: Hematoxylin and eosin stain shows mild mesangial proliferation (as the arrow indicates). Original magnification 400 ×; B: Immunofluorescence shows deposition of immunoglobulin A (as the arrow indicates). Original magnification 400 ×; C: Immunofluorescence shows deposition of C3 (as the arrow indicates). Original magnification 400 ×; D: Electron microscopy shows diffuse thinning of the glomerular basement membrane (as the arrow indicates). Scale bars: 2 μm.

Figure 3 Findings of COL4A3 gene mutations. A heterozygous synonymous variant (c.888G>A:p.Gln296Gln) was screened in the COL4A3 gene from the proband’s and her son’s DNA sample.