The copy number variation landscape of congenital anomalies of the kidney and urinary tract
- Verbitsky, Miguel
- Westland, Rik
- Perez, Alejandra
- Kiryluk, Krzysztof
- Liu, Qingxue
- Krithivasan, Priya
- Mitrotti, Adele
- Fasel, David A.
- Batourina, Ekaterina
- Sampson, Matthew G.
- Bodria, Monica
- Werth, Max
- Kao, Charlly
- Martino, Jeremiah
- Capone, Valentina P.
- Vivante, Asaf
- Shril, Shirlee
- Kil, Byum Hee
- Marasà, Maddalena
- Zhang, Jun Y.
- Na, Young-Ji
- Lim, Tze Y.
- Ahram, Dina
- Weng, Patricia L.
- Heinzen, Erin L.
- Carrea, Alba
- Piaggio, Giorgio
- Gesualdo, Loreto
- Manca, Valeria
- Masnata, Giuseppe
- Gigante, Maddalena
- Cusi, Daniele
- Izzi, Claudia
- Scolari, Francesco
- van Wijk, Joanna A. E.
- Saraga, Marijan
- Santoro, Domenico
- Conti, Giovanni
- Zamboli, Pasquale
- White, Hope
- Drozdz, Dorota
- Zachwieja, Katarzyna
- Miklaszewska, Monika
- Tkaczyk, Marcin
- Tomczyk, Daria
- Krakowska, Anna
- Sikora, Przemyslaw
- Jarmoliński, Tomasz
- Borszewska- Kornacka, Maria K.
- Pawluch, Robert
- Szczepanska, Maria
- Adamczyk, Piotr
- Mizerska-Wasiak, Malgorzata
- Krzemien, Grazyna
- Szmigielska, Agnieszka
- Zaniew, Marcin
- Dobson, Mark G.
- Darlow, John M.
- Puri, Prem
- Barton, David E.
- Furth, Susan L.
- Warady, Bradley A.
- Gucev, Zoran
- Lozanovski, Vladimir J.
- Tasic, Velibor
- Pisani, Isabella
- Allegri, Landino
- Rodas, Lida M.
- Campistol, Josep M.
- Jeanpierre, Cécile
- Alam, Shumyle
- Casale, Pasquale
- Wong, Craig S.
- Lin, Fangming
- Miranda, Débora M.
- Oliveira, Eduardo A.
- Simões-e-Silva, Ana Cristina
- Barasch, Jonathan M.
- Levy, Brynn
- Wu, Nan
- Hildebrandt, Friedhelm
- Ghiggeri, Gian Marco
- Latos-Bielenska, Anna
- Materna- Kiryluk, Anna
- Zhang, Feng
- Hakonarson, Hakon
- Papaioannou, Virginia E.
- Mendelsohn, Cathy L.
- Gharavi, Ali G.
- Sanna-Cherchi, Simone
DOIAbstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2, 824 cases and 21, 498 controls. Affected individuals carried a significant burden of rare exonic (i.e. affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD- CNVs and novel deletions ; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs ; vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12, and 22q11....