Figure 4

Overview of the COL4A5 mutation identified in Family 3. (A) Pedigree for family 3. A full-shaded icon denotes ESRD; a 3/4-shaded icon denotes impaired renal function; individual with unknown phenotype is indicated in gray. Asterisk indicates the individual examined by whole exome sequencing. (B) Sanger sequencing electropherograms confirming the COL4A5 donor splice site mutation (c.687 + 1G > A), and multiple species sequence alignment showing conserved GT in the donor splice site.