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

被引：0

作者：

Miguel Verbitsky

Rik Westland

Alejandra Perez

Krzysztof Kiryluk

Qingxue Liu

Priya Krithivasan

Adele Mitrotti

David A. Fasel

Ekaterina Batourina

Matthew G. Sampson

Monica Bodria

Max Werth

Charlly Kao

Jeremiah Martino

Valentina P. Capone

Asaf Vivante

Shirlee Shril

Byum Hee Kil

Maddalena Marasà

Jun Y. Zhang

Young-Ji Na

Tze Y. Lim

Dina Ahram

Patricia L. Weng

Erin L. Heinzen

Alba Carrea

Giorgio Piaggio

Loreto Gesualdo

Valeria Manca

Giuseppe Masnata

Maddalena Gigante

Daniele Cusi

Claudia Izzi

Francesco Scolari

Joanna A. E. van Wijk

Marijan Saraga

Domenico Santoro

Giovanni Conti

Pasquale Zamboli

Hope White

Dorota Drozdz

Katarzyna Zachwieja

Monika Miklaszewska

Marcin Tkaczyk

Daria Tomczyk

Anna Krakowska

Przemyslaw Sikora

Tomasz Jarmoliński

Maria K. Borszewska-Kornacka

Robert Pawluch

机构：

[1] Columbia University,Division of Nephrology, Department of Medicine

[2] New York,Department of Pediatric Nephrology

[3] Amsterdam UMC,Department of Urology

[4] Columbia University College of Physicians and Surgeons,Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia

[5] New York,Center for Applied Genomics

[6] University of Michigan School of Medicine,Department of Medicine

[7] Department of Pediatrics-Nephrology,Pediatric Department B and Pediatric Nephrology Unit, Edmond and Lily Safra Children′s Hospital, Chaim Sheba Medical Center, Tel Hashomer and the Sackler Faculty of Medicine

[8] Istituto G. Gaslini,Department of Pediatric Nephrology

[9] The Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania,Institute for Genomic Medicine

[10] Boston Children’s Hospital,Section of Nephrology, Department of Emergency and Organ Transplantation

[11] Harvard Medical School,Department of Pediatric Urology

[12] Tel Aviv University,National Research Council of Italy

[13] UCLA Medical Center and UCLA Medical Center-Santa Monica,Dipartimento Ostetrico

[14] Columbia University Medical Center,Ginecologico e Seconda Divisione di Nefrologia ASST

[15] New York,Department of Pediatrics

[16] University of Bari,School of Medicine

[17] Azienda Ospedaliera Brotzu,Dipartimento di Medicina Clinica e Sperimentale

[18] Inst. Biomedical Technologies Milano Bio4dreams Scientific Unit,Department of Pediatric Nephrology

[19] Spedali Civili e Presidio di Montichiari,Division of Nephrology

[20] Cattedra di Nefrologia,Department of Pediatric Nephrology and Hypertension, Dialysis Unit

[21] Università di Brescia,Department of Pediatric Nephrology

[22] Seconda Divisione di Nefrologia,Department of Pediatrics, Immunology and Nephrology

[23] Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari,Children’s Department

[24] University Hospital of Split,Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze

[25] University of Split,Department of Pediatrics and Nephrology

[26] Università degli Studi di Messina,Department of Pediatrics

[27] Azienda Ospedaliera Universitaria “G. Martino”,Department of Clinical Genetics

[28] University of Campania “Luigi Vanvitell”,National Children’s Research Centre

[29] Jagiellonian University Medical College,Departments of Pediatrics and Epidemiology

[30] Jagiellonian University Medical College,Department of Pediatrics

[31] Polish Mother′s Memorial Hospital Research Institute,Department of Medicine and Surgery

[32] Department of Pediatric Nephrology Medical University of Lublin,Renal Division, Hospital Clinic, IDIBAPS

[33] Międzyrzecki Hospital,Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163

[34] Medical University of Silesia in Katowice,Department of Pediatric Urology

[35] Medical University of Warsaw,Mount Sinai Medical Center

[36] University of Zielona Góra,Division of Pediatric Nephrology

[37] Our Lady′s Children′s Hospital Crumlin,Division of Pediatric Nephrology, Department of Pediatrics

[38] Our Lady′s Children′s Hospital Crumlin,Department of Pediatrics, Unit of Pediatric Nephrology, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine

[39] National Children’s Hospital Tallaght,Department of Pathology and Cell Biology

[40] University College Dublin UCD School of Medicine,Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Medical Research Center of Orthopedics, all at Peking Union Medical College Hospital

[41] Our Lady’s Children’s Hospital Crumlin,Department of Molecular and Human Genetics

[42] Perelman School of Medicine at the University of Pennsylvania,Department of Medical Genetics

[43] Division of Nephrology,Obstetrics and Gynecology Hospital

[44] Children’s Hospital of Philadelphia (CHOP),Department of Genetics and Development

[45] University of Missouri-Kansas City School of Medicine,undefined

[46] Division of Nephrology,undefined

[47] Children’s Mercy Kansas City,undefined

[48] University Children′s Hospital,undefined

[49] Medical Faculty of Skopje,undefined

[50] University Clinic for General,undefined

来源：

Nature Genetics | 2019年 / 51卷

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摘要：

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 (that is, 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; and 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.

引用

页码：117 / 127

页数：10

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