ROBO2 missense mutations in familial CAKUT and VUR. A, Family 2559x with CAKUT-VUR and exon 19 (c.3477T→C) mutation. Arrow indicates the proband. Blackened and gray symbols indicate patients with CAKUT-VUR and family members with urinary tract symptoms and radiological evidence of CAKUT. Nucleotide changes are shown under each individual. B, 99mTc-dimercaptosuccinic acid renogram of proband 25592 showing bilateral renal parenchymal defects (arrow). C, VCUG of proband 25592 showing bilateral reflux (bidirectional arrow). Chromatograms show T→C change (arrow) in exon 19 of family 2559x (D) and amino acid conservation across species (E). F, Family B5 with CAKUT-VUR and exon 23 (c.4349G→A) mutation. G, VCUG showing bilateral VUR (bidirectional arrow) and right duplex kidney (arrow) in proband B5. H, IVP detecting right duplex kidney (arrows) in proband B5. I, US showing suspected duplex (arrow) in upper pole of the right kidney in D1, an asymptomatic aunt of proband B5. Chromatograms show G→A change (arrow) in exon 23 of family B5 (J) and amino acid conservation across species (K).