Fig. 2: Renal histopathological findings of the patients with Alport syndrome. | Human Genome Variation

Fig. 2: Renal histopathological findings of the patients with Alport syndrome.

From: Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family

Fig. 2

A Electron microscopy of the glomerular basement membrane in the proband (III:3). Bar = 1 µm. B Immunofluorescence staining of the type IV collagen α2 chain (red) and α5 chain (green) in the renal biopsy sample of the proband (III:3). Normal diffuse staining of the α2 chain was seen in the glomerular basement membrane, Bowman’s capsule, and tubular basement membrane, whereas discontinuous staining of the α5 chain was seen. Arrows indicate regions where the α5 chain was not well expressed when compared to the α2 chain. Bar = 50 µm. C Immunofluorescence staining of the type IV collagen α2 chain (red) and α5 chain (green) in the renal biopsy sample of the proband’s first daughter (IV:1). Bar = 50 µm.

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