Molecular Screening of PAX2 Gene Polymorphism in Primary Vesicoureteral Reflux Patients in Taif Governorate, KSA.

<b>Background and Objective:</b> Primary Nonsyndromic Vesicoureteral Reflux (PVUR) is a widespread genetic malformation and considered a prevalent Congenital Abnormality of the Kidney and Urinary Tract (CAKUT). Mutations in the <i>PAX2 </i>gene have been associated with abnormalities in the kidney extending from CAKUT to oncogenic processes. The present study analyzes the <i>PAX2</i> polymorphisms and their association with primary VUR in Saudi children patients from the Taif governorate. <b>Materials and Methods:</b> Fifteen children with primary VUR were identified and screened for gene mutations in the <i>PAX2</i> gene by direct sequencing method of purified Polymerase Chain Reaction (PCR) products of all exons to elucidate the correlation between <i>PAX2</i> gene and VUR. <b>Results:</b> Seven new variants have been defined. Three polymorphic missense variants in homozygous genotype form were found in intron 8 and detected in eight patients, One missense mutation was found in exon 10 in the site of transactivation domain and detected in ten patients and <i>in-silico</i> analysis predicted it as a pathogenic one, Three mutations were found in exon 11 and detected in all patients as a compound homozygous. <b>Conclusion:</b> <i>PAX2</i>is important for normal kidney development and mutations in the gene possibly lead to disturbance in the protein structure and could be non-functional thus mutations in <i>PAX2</i> may be one of the causes of PVUR in Saudi Arabia. Further investigation is necessary to understand the aetiology of disease and maybe other genes implicated in VUR.