The copy number variation landscape of congenital anomalies of the kidney and urinary tract (CROSBI ID 275353)
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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
engleski
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
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 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1- p16.3, and 22q11.2 were specific for KA ; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.
renal replacement therapy ; candidate genes ; vitamin-a ; branching morphogenesis ; genomic disorders ; digeorge-syndrome ; rare variants ; mutations ; disease ; deletion
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Kliničke medicinske znanosti
