AUTHOR=Harris Meredith , Schuh Meredith P. , McKinney David , Kaufman Kenneth , Erkan Elif 

TITLE=Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.898773

DOI=10.3389/fped.2022.898773

ISSN=2296-2360

ABSTRACT=<p>Fetal and neonatal interventions (e.g., amnioinfusions, amniotic shunting, and infant dialysis) have increased survival of infants with severe Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), however, outcomes vary dramatically. Our aim was to perform Whole Exome Sequencing (WES) in a unique severe CAKUT population with the goal to identify new variants that will enhance prediction of postnatal outcomes. We performed trio WES on five infants with severe CAKUT (undergoing fetal interventions and/or those who initiated renal replacement therapy (RRT) within 1 month of life) and their parents as well as three singletons. We identified three potential candidate gene variants (<italic>NSUN7, MTMR3, CEP162</italic>) and validated two variants in known CAKUT genes (<italic>GATA3 and FRAS1</italic>) showing strong enrichment in this severe phenotype population. Based on our small pilot study of a unique severe CAKUT population, WES appears to be a potential tool to help predict the course of infants with severe CAKUT prenatally.</p>