Fig. 1
From: A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene
Clinical manifestations of the patient. (A) Pedigree chart of the proband and Sanger sequencing results of the proband, father, mother, and sister. The black color in the pedigree chart represents the patient with COL4A5-c.1517-1G > T mutation. Half-hatched symbols represent patients or carriers of the mutation. DNA sequencing was performed using Sanger sequencing analysis. The red boxes highlight the gene mutation sites. (B-D) Histological changes in the patient’s kidney tissue. (B) PAS staining (×400); (C) PASM staining (×400); (D) MASSON staining (×400). (E-G) TEM results of the patient. In (E, F), the red arrows indicate relatively thickened basement membrane areas, while the blue arrows indicate relatively thin sections of the basement membrane. In (G), the black arrow indicates the thickening of the dense layer of the basement membrane with fusion in the foot processes.
