The European Rare Kidney Disease Reference Network


Research Project

Project Title:


Project Type:

Translational research

Disease group(s):

Renal malformations

Project Summary:

Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 30% of all developmental anomalies. One of the most severe CAKUT phenotype is renal hypo/dysplasia (RHD: OMIM #610805), which is a defect in the number and/or normal differentiation of nephronic units with a subsequent impairment of kidney function. Non-syndromic RHD accounts for almost 20-25% of all causes of end stage renal failure in children. Genetic causes of RHD are supported by both animal models and familial cases studies. Mutations of at least 15 genes involved in the early stages of kidney development and some copy number variations (CNV) have been associated with RHD. Nevertheless, the majority of patients remains without a genetic diagnosis, that would be helpful for prognostic evaluation.
Broad objectives and specific aims: The overall objective of the project is the identification of genetic determinants for bilateral non-syndromic renal hypo/dysplasia and any correlated phenotype (upper urinary tract abnormalities).Starting from the results obtained from the study of WES on 20 pediatric patients with isolated and sporadic RHD, conducted by our unit as part of the strategic project of Padua University "Bioinfogen" , we will evaluate the genetic variants highlighted with the bioinformatics analysis on new candidate genes, confirmations with Sanger sequencing will be performed and mutational screenings will also be performed on a larger population of patients with RHD enrolled in these last 3 years (about 100 patients).Moreover, for those patients that will have a negative screening, we will analyze whole genome searching for CNV.During the study, a specific target sequencing panel will also be designed:It will contain the regulatory intronic regions of the known genes of renal development, identified by means of alignment study and inter-species conservation. This panel can be used in patients who have not obtained a candidate genetic variant, nor from the exome, nor from CNV research.
Anticipated output: The results will permit to lay the basis for setting up an RHD diagnostic panel, allowing the screening of causative genes involved in the kidney developmental abnormalities.

Lead principal investigator(s):

Luisa Murer, Padova
Giorgio Perilongo, Padova


Susanna Negrisolo, Padova
Davide Meneghesso, Padova

Project Period:

01/2018   -   12/2020


Local resources

« Back to research page