Sarath Babu K
@sarathbabuk.bsky.social
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.
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.
August 12, 2025 at 9:16 PM
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.
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.
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.
August 12, 2025 at 9:11 PM
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.
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
August 12, 2025 at 9:08 PM
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