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Figure 1 | BMC Nephrology

Figure 1

From: Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease

Figure 1

COL4A4 mutations identified in Family 1. (A) Pedigree for family 1. A full-shaded icon denotes ESRD; individuals with microscopic hematuria and proteinuria but with normal renal function are indicated with a half-shaded icon; individual with unknown phenotype is indicated in gray. Asterisk indicates the individual examined by whole exome sequencing. (B) Light microscopic renal biopsy from III-1, stained with hematoxylin and eosin showing segmental mesangial cell proliferation (X40). (C) Sanger sequencing electropherograms confirming the heterozygous missense COL4A4 c.G2636A (p.Gly879Glu) and c.C4715T (p.Pro1572Leu) mutations, and multiple species protein sequence alignment showing conservation of the mutated Gly879 and Pro1572 residues.

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BMC Nephrology

ISSN: 1471-2369

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