Sarath Babu K

Two genes are now confirmed as new causes of CAKUT:
NR6A1: Found in 13 patients across cohorts; variants often caused combined eye + kidney defects. Encodes a nuclear receptor essential for early organogenesis.
ARID3A: 7 individuals identified; regulates nephrogenesis.

Diagnostic yield: Pathogenic or LP variants in 14.1% of cases.
Top known culprits? HNF1B and PAX2 — but they only explain a fraction.
Most cases are genetically heterogeneous, with many genes each affecting a small number of patients.

CAKUT affects ~0.5% of newborns, accounts for 50% of pediatric kidney failure. It includes malformations like kidney agenesis, dysplasia, hypoplasia, and urinary tract defects.We analyzed 1,990 CAKUT cases (248 trios + 1,742 singletons) & 22,258 ctrls wt a goal to identify both known & novel genes

Exome analysis links kidney malformations to developmental disorders and reveals causal genes Nature Communications - The authors analyze rare coding variants in 1990 individuals with congenital kidney anomalies, finding diagnostic variants in 14.1% of cases. They identify two new causal...

Our work on CAKUT is out in Nature Communications. This is the largest genetic study yet of Congenital Kidney Anomalies, linking kidney malformations to broader developmental disorders & discovering two novel causal genes. www.nature.com/articles/s41...