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

doi:10.1038/s41588-018-0281-y

prikaz prve stranice dokumenta The copy number variation landscape of congenital anomalies of the kidney and urinary tract

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Scientific paper - Original scientific paper

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Nature genetics, 51 (2019), 1; 117-127. https://doi.org/10.1038/s41588-018-0281-y

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 More authors...

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APA 6th Edition

Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P. ... Sanna Cherchi, S. (2019). The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics, 51. (1), 117-127. doi: 10.1038/s41588-018-0281-y

MLA 8th Edition

Verbitsky, Miguel, et al. "The copy number variation landscape of congenital anomalies of the kidney and urinary tract." Nature genetics, vol. 51, no. 1, 2019, pp. 117-127. https://doi.org/10.1038/s41588-018-0281-y

Chicago 17th Edition

Verbitsky, Miguel, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, et al. "The copy number variation landscape of congenital anomalies of the kidney and urinary tract." Nature genetics 51, no. 1 (2019): 117-127. https://doi.org/10.1038/s41588-018-0281-y

Harvard

Verbitsky, M., et al. (2019) 'The copy number variation landscape of congenital anomalies of the kidney and urinary tract', Nature genetics, 51(1), pp. 117-127. doi: 10.1038/s41588-018-0281-y

Vancouver

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, and sur.. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics [Internet]. 2019 [cited 2025 January 26];51(1):117-127. doi: 10.1038/s41588-018-0281-y

IEEE

M. Verbitsky, et al., "The copy number variation landscape of congenital anomalies of the kidney and urinary tract", Nature genetics, vol. 51, no. 1, pp. 117-127, 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:595940. [Accessed: 26 January 2025]

Cite this item: https://urn.nsk.hr/urn:nbn:hr:184:595940

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Title (english)	The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Author	Miguel Verbitsky
Author	Rik Westland
Author	Alejandra Perez
Author	Krzysztof Kiryluk
Author	Qingxue Liu
Author	Priya Krithivasan
Author	Adele Mitrotti
Author	David A. Fasel
Author	Ekaterina Batourina
Author	Matthew G. Sampson
Author	Monica Bodria
Author	Max Werth
Author	Charlly Kao
Author	Jeremiah Martino
Author	Valentina P. Capone
Author	Asaf Vivante
Author	Shirlee Shril
Author	Byum Hee Kil
Author	Maddalena Marasà
Author	Jun Y. Zhang
Author	Young-Ji Na
Author	Tze Y. Lim
Author	Dina Ahram
Author	Patricia L. Weng
Author	Erin L. Heinzen
Author	Alba Carrea
Author	Giorgio Piaggio
Author	Loreto Gesualdo
Author	Valeria Manca
Author	Giuseppe Masnata
Author	Maddalena Gigante
Author	Daniele Cusi
Author	Claudia Izzi
Author	Francesco Scolari
Author	Joanna A. E. van Wijk
Author	Marijan Saraga
Author	Domenico Santoro
Author	Giovanni Conti
Author	Pasquale Zamboli
Author	Hope White
Author	Dorota Drozdz
Author	Katarzyna Zachwieja
Author	Monika Miklaszewska
Author	Marcin Tkaczyk
Author	Daria Tomczyk
Author	Anna Krakowska
Author	Przemyslaw Sikora
Author	Tomasz Jarmoliński
Author	Maria K. Borszewska- Kornacka
Author	Robert Pawluch
Author	Maria Szczepanska
Author	Piotr Adamczyk
Author	Malgorzata Mizerska-Wasiak
Author	Grazyna Krzemien
Author	Agnieszka Szmigielska
Author	Marcin Zaniew
Author	Mark G. Dobson
Author	John M. Darlow
Author	Prem Puri
Author	David E. Barton
Author	Susan L. Furth
Author	Bradley A. Warady
Author	Zoran Gucev
Author	Vladimir J. Lozanovski
Author	Velibor Tasic
Author	Isabella Pisani
Author	Landino Allegri
Author	Lida M. Rodas
Author	Josep M. Campistol
Author	Cécile Jeanpierre
Author	Shumyle Alam
Author	Pasquale Casale
Author	Craig S. Wong
Author	Fangming Lin
Author	Débora M. Miranda
Author	Eduardo A. Oliveira
Author	Ana Cristina Simões-e-Silva
Author	Jonathan M. Barasch
Author	Brynn Levy
Author	Nan Wu
Author	Friedhelm Hildebrandt
Author	Gian Marco Ghiggeri
Author	Anna Latos-Bielenska
Author	Anna Materna- Kiryluk
Author	Feng Zhang
Author	Hakon Hakonarson
Author	Virginia E. Papaioannou
Author	Cathy L. Mendelsohn
Author	Ali G. Gharavi
Author	Simone Sanna-Cherchi
Author's institution	University of Rijeka Faculty of Medicine (Department of Pediatrics)
Scientific / art field, discipline and subdiscipline	BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences
Abstract (english)	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.
Keywords (english)
Language	english
Publication type	Scientific paper - Original scientific paper
Publication status	Published
Peer review	Peer review
Publication version	Published version
Journal title	Nature genetics
Numbering	vol. 51, no. 1, pp. 117-127
p-ISSN	1061-4036
DOI	https://doi.org/10.1038/s41588-018-0281-y
URN:NBN	urn:nbn:hr:184:595940
Publication	2019
Document URL	http://bib.irb.hr/1050139
Type of resource	Text
Access conditions	Restricted access
Terms of use
Created on	2022-03-10 14:15:04