Rare Copy Number Variants Implicated in Posterior Urethral Valves
HHS Public Access Author manuscript Author ManuscriptAuthor Manuscript Author Am J Med Manuscript Author Genet A. Author Manuscript Author manuscript; available in PMC 2018 October 29. Published in final edited form as: Am J Med Genet A. 2016 March ; 170(3): 622–633. doi:10.1002/ajmg.a.37493. Rare Copy Number Variants Implicated in Posterior Urethral Valves Nansi S. Boghossian1,2,*, Robert J. Sicko3, Denise M. Kay3, Shannon L. Rigler2, Michele Caggana3, Michael Y. Tsai4, Edwina H. Yeung2, Nathan Pankratz4, Benjamin R. Cole4, Charlotte M. Druschel5,6, Paul A. Romitti7, Marilyn L. Browne5,6, Ruzong Fan2, Aiyi Liu2, Lawrence C. Brody8, and James L. Mills2 1Department of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, South Carolina 2Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 3Department of Health, Division of Genetics, Wadsworth Center, Albany, New York 4Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 5Department of Health, Congenital Malformations Registry, Albany, New York 6University at Albany School of Public Health, Rensselaer, New York 7Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa 8Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Abstract The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998–2005).
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