Volume 84, Issue 2, Pages (August 2013)

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Volume 84, Issue 2, Pages 327-337 (August 2013) Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux Mark G. Dobson, John M. Darlow, Manuela Hunziker, Andrew J. Green, David E. Barton, Prem Puri Kidney International Volume 84, Issue 2, Pages 327-337 (August 2013) DOI: 10.1038/ki.2013.100 Copyright © 2013 International Society of Nephrology Terms and Conditions

Figure 1 Vesicoureteric reflux (VUR) family segregating the missense variant c.1564C>A, which codes for the amino-acid change p.Pro522Thr. (a) Pedigree of VUR family 166. Arrow indicates the index case, 166.4. Filled symbols indicate VUR.+ and - indicate heterozygous presence and absence of the DNA variant. (b) MCUG of 166.4 showing right grade 4 VUR. (c) MCUG of 166.3 showing bilateral grades 3–4 VUR. (d) Chromatogram showing the missense variant c.1564C>A. (e) Alignment of sections of the ROBO2 protein sequences of seven other vertebrate species with the human sequence to show the conservation of the proline 522 residue. Gly, glycine; Leu, leucine; MCUG, micturating cystourethrogram; Pro, proline; Thr, threonine. Kidney International 2013 84, 327-337DOI: (10.1038/ki.2013.100) Copyright © 2013 International Society of Nephrology Terms and Conditions

Figure 2 Vesicoureteric reflux (VUR) families segregating the missense variant c.2365G>A, which codes for the amino-acid change p.Val799Ile. (a) Pedigree of family 43. Arrow indicates the index case. Black filled symbols indicate VUR and congenital anomalies of the kidney and urinary tract (CAKUT). Grey-filled symbols indicate kidney problems of unknown diagnosis. + and - indicate heterozygous presence and absence of the DNA variant. (b) Anterior view dimercaptosuccinic acid (DMSA) scan of the index case of family 43 showing a severely scarred left kidney, contributing only 10% of the renal tubular mass. (c) Right lateral MCUG of the sister of the index case showing bilateral VUR and left duplex kidney. (d) Pedigree of family 179. Black filled symbols indicate VUR. Other annotation as for family 43. (e, f) MCUG of the index case of family 179 and of her sister, both showing left grade 3 VUR, the latter with grade 1 reflux into a dilated right ureter. (g) Chromatogram showing the variant named above. (h) Alignment of sections of the ROBO2 protein sequences of seven other vertebrate species with the human sequence to show the conservation of the valine 799 residue. The known Xenopus laevis sequence does not quite reach the position. Ile, isoleucine; MCUG, micturating cystourethrogram; Ser, serine; Val, valine. Kidney International 2013 84, 327-337DOI: (10.1038/ki.2013.100) Copyright © 2013 International Society of Nephrology Terms and Conditions

Kidney International 2013 84, 327-337DOI: (10.1038/ki.2013.100) Copyright © 2013 International Society of Nephrology Terms and Conditions