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Fig. 4 | BMC Nephrology

Fig. 4

From: An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China

Fig. 4

The renal pathology of P3. a, b LM shows minor glomerular abnormalities in PAS and PASM staining. c, d EM shows lamellation in GBM and fusion of the podocytic process. Genomic analysis. WES results of the patient and his parents indicate that P3 has 2 variants in the COL4A4 gene: e c.[3636_3637del], p.(R1212fs), exon39, chr2:227896933–227,896,934, NM_000092, inherited from his father; f c.[4421C>T], p.(T1474M), exon46, chr2:227875130, NM_000092, inherited from his mother. The family pedigree of P3. g Both of his parents are with normal phenotype

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BMC Nephrology

ISSN: 1471-2369

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