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NDT Advance Access originally published online on September 29, 2006
Nephrology Dialysis Transplantation 2006 21(12):3415-3421; doi:10.1093/ndt/gfl465
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© The Author [2006]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Mutation analyses of Uroplakin II in children with renal tract malformations

Dagan Jenkins1, Maria Bitner-Glindzicz1, Sue Malcolm1, Jennifer Allison1, Rose de Bruyn1, Sarah Flanagan2, David F. M. Thomas3, Rachel A. Belk3, Sally A. Feather3, Coralie Bingham2, Jennifer Southgate4 and Adrian S. Woolf1

1UCL Institute of Child Health, and Great Ormond Street Hospital NHS Trust, London, 2Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, 3St James’ University Hospital, Leeds and 4Jack Birch Unit of Molecular Carcinogenesis Department of Biology, University of York, York, UK

Correspondence and offprint requests to: Dagan Jenkins, Nephro-Urology Unit, UCL Institute of Child Health, London, WCIN IEH, UK. Email: dagan.jenkins{at}imm.ox.ac.uk

Background. Uroplakin (UP) proteins cover urothelial apical surfaces. Mice lacking UPIIIa have elevated urothelial permeability and congenital renal tract anomalies, and UPIIIa mutations have been reported in children with kidney and ureter malformations. Mice with null mutation of another UP family member, UPII, are often born with congenital hydronephrosis. We hypothesized that UPII mutations may be present in humans with renal tract malformations.

Methods. Mutations were sought, using direct sequencing of the five UPII exons, in 42 children with diverse renal tract anomalies.

Results. No UPII abnormalities were detected in 41 patients, whereas one index case had a heterozygous frameshift change which, if expressed, would generate a truncated protein. This Caucasian child presented with vesicoureteric reflux (VUR), bilateral nephropathy and renal failure. The genetic change was also found in the index case's mother who had normal renal ultrasonography, but it was absent in 150 healthy Caucasian control individuals (96 assessed by direct sequencing and another 54 assessed by restriction digests). UPII was immunolocalized in urothelium of the normal human embryonic renal pelvis in a pattern similar to UPIIIa.

Conclusion. This study offers no definitive support for UPII mutations causing human renal tract malformations. In rare patients, UPII variants might be implicated in pathogenesis when acting in conjunction with other yet-to-be-defined, genetic or environmental modifying factors.

Keywords: gene; malformation; renal failure; uroplakin; VUR


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