Unknown

Dataset Information

0

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

ABSTRACT: 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 (NSUN7, MTMR3, CEP162) and validated two variants in known CAKUT genes (GATA3 and FRAS1) 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.

SUBMITTER: Harris M 

PROVIDER: S-EPMC9386178 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Harris Meredith M   Schuh Meredith P MP   McKinney David D   Kaufman Kenneth K   Erkan Elif E  

Frontiers in pediatrics 20220804

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 inter  ...[more]

Similar Datasets

Unknown Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
| S-EPMC6115658 | biostudies-literature
Unknown Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.
| S-EPMC7141392 | biostudies-literature
Unknown Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
| S-EPMC10250376 | biostudies-literature
Unknown Targeted Exome Sequencing Identifies <i>PBX1</i> as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
| S-EPMC5619971 | biostudies-literature
Unknown Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
| S-EPMC5362362 | biostudies-literature
Unknown Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
| S-EPMC9755999 | biostudies-literature
Unknown Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).
| S-EPMC4266037 | biostudies-literature
Unknown Congenital Anomalies of the Kidney and Urinary Tract and Adulthood risk of Urinary Tract Cancer.
| S-EPMC8071628 | biostudies-literature
Unknown Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
| S-EPMC5198271 | biostudies-literature
Unknown Congenital anomalies of the kidney and urinary tract: a genetic disorder?
| S-EPMC3363415 | biostudies-literature