Article
Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Nature communications - 7 Aug 2025
Milo Rasouly Hila, Krishna Murthy Sarath Babu, Vena Natalie, Povysil Gundula, Beenken Andrew, Verbitsky Miguel, Shril Shirlee, Lekkerkerker Iris, Yang Sandy, Khan Atlas, Fasel David, Wongboonsin Janewit, Martino Jeremiah, Ke Juntao, Elefant Naama, Tomar Nikita, Harnof Ofek, Kisselev Sergey, Bheda Shiraz, Reytan-Miron Sivan, Lim Tze Y, Jamry-Dziurla Anna, Lugani Francesca, Zhang Jun Y, Marasa Maddalena, Kolupaeva Victoria, Groopman Emily E, Jin Gina, Ghavami Iman, Stevens Kelsey O, Coughlin Arielle C, Kil Byum Hee, Chatterjee Debanjana, Bradbury Drew, Zheng Jason, Mehl Karla, Morban Maria, Reingold Rachel, Piva Stacy, Mu Xueru, Mitrotti Adele, Szmigielska Agnieszka, Gliwińska Aleksandra, Ranghino Andrea, Bomback Andrew S, Badenski Andrzej, Latos-Bielenska Anna, Capone Valentina, Materna-Kiryluk Anna, Amoroso Antonio, Izzi Claudia, La Scola Claudio, Cohen David Jonathan, Santoro Domenico, Drozdz Dorota, Fiaccadori Enrico, Lin Fangming, Scolari Francesco, Tondolo Francesco, La Manna Gaetano, Appel Gerald B, Ghiggeri Gian Marco, Zaza Gianluigi, Montini Giovanni, Masnata Giuseppe, Krzemien Grażyna, Pisani Isabella, Radhakrishnan Jai, Zachwieja Katarzyna, Gesualdo Loreto, Biancone Luigi, Meneghesso Davide, Mizerska-Wasiak Malgorzata, Tkaczyk Marcin, Zaniew Marcin, Borszewska-Kornacka Maria K, Szczepanska Maria, Saraga Marijan, Rao Maya K, Bodria Monica, Miklaszewska Monika, Uy Natalie S, Baraldi Olga, Bjanid Omar, Esposito Pasquale, Zamboli Pasquale, Marzuillo Pierluigi, Canetta Pietro A, Sikora Przemyslaw, Westland Rik, Crew Russell J, Alam Shumyle, Guarino Stefano, Negrisolo Susanna, Hays Thomas, Mane Shrikant, Grandinetti Valeria, Tasic Velibor, Lozanovski Vladimir J, Caliskan Yasar, Goldstein David, Lifton Richard P, Ionita-Laza Iuliana, Kiryluk Krzysztof, van Eerde Albertien M, Hildebrandt Friedhelm, Sanna-Cherchi Simone, Gharavi Ali G
Abstract excerpt
Congenital anomalies of the kidneys and urinary tract (CAKUT) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examine here rare coding variants in 248 CAKUT trios and 1742 singleton CAKUT cases and compare them to 22,258 controls. Diagnostic and candidate diagnostic variants are detected in 14.1% of cases. We find a significant enrichment of rare damaging...
