No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux.
OBJECTIVE
The uroplakin III (UPIII) knockout mouse provides a good model for human primary vesicoureteral reflux (VUR). Since to our knowledge no causative genes in human VUR have been identified to date, we wondered whether the UPIII gene might be involved in human primary VUR. Therefore, the UPIII gene was sequenced to see if any mutations could be detected in patients with primary VUR.


METHODS
DNA was obtained from 25 patients who were surgically treated for primary VUR. Each patient had a family history positive for VUR.


RESULTS
No pathogenic mutations were identified in patient DNA. One missense mutation (Ala154Pro) not reported in the human genome data base was observed. However, because its frequency in the patient and control populations was similar, it was interpreted as a polymorphism.


CONCLUSIONS
Although mutations in regulatory elements affecting gene function cannot be excluded, the UPIII gene does not seem to have a major role in primary VUR in humans.
Giltay
Jacques C
JC
Department of Medical Genetics, University Medical Center Utrect, The Netherlands. J.C.Giltay@dmg.azu.nl
van de Meerakker
Judith
J
van Amstel
Hans-Krisian Ploos
HK
de Jong
Tom P V M
TP
D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D060171:Uroplakin III; D014718:Vesico-Ureteral Reflux / Q000235:genetics*
D008562:Membrane Glycoproteins; C554660:UPK3A protein, human; C554661:Upk3a protein, mouse; D060171:Uroplakin III