{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T08:47:38Z","timestamp":1777538858005,"version":"3.51.4"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,12,14]],"date-time":"2015-12-14T00:00:00Z","timestamp":1450051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["N01\u2010DK\u201073431"],"award-info":[{"award-number":["N01\u2010DK\u201073431"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>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\u2010births in New York State (1998\u20132005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex\u2010linked CNVs were identified using PennCNV and cnvPartition software. CNVs were prioritized for follow\u2010up if they were absent from in\u2010house controls, contained \u226510 consecutive probes, were \u226520\u2009Kb in size, had \u226420% overlap with variants detected in other birth defect phenotypes screened in our lab, and were rare in population reference controls. We identified 47 rare candidate PUV\u2010associated CNVs in 32 cases; one case had a 3.9\u2009Mb deletion encompassing <jats:italic>BMP7<\/jats:italic>. Mutations in <jats:italic>BMP7<\/jats:italic> have been associated with severe anomalies in the mouse urethra. Other interesting CNVs, each detected in a single PUV case included: a deletion of <jats:italic>PIK3R3<\/jats:italic> and <jats:italic>TSPAN1<\/jats:italic>, duplication\/triplication in <jats:italic>FGF12<\/jats:italic>, duplication of <jats:italic>FAT1<\/jats:italic>\u2014a gene essential for normal growth and development, a large deletion (&gt;2\u2009Mb) on chromosome 17q that involves <jats:italic>TBX2<\/jats:italic> and <jats:italic>TBX4<\/jats:italic>, and large duplications (&gt;1\u2009Mb) on chromosomes 3q and 6q. Our finding of previously unreported novel CNVs in PUV suggests that genetic factors may play a larger role than previously understood. Our data show a potential role of CNVs in up to 57% of cases examined. Investigation of genes in these CNVs may provide further insights into genetic variants that contribute to PUV. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37493","type":"journal-article","created":{"date-parts":[[2015,12,14]],"date-time":"2015-12-14T11:39:10Z","timestamp":1450093150000},"page":"622-633","source":"Crossref","is-referenced-by-count":28,"title":["Rare copy number variants implicated in posterior urethral valves"],"prefix":"10.1002","volume":"170","author":[{"given":"Nansi S.","family":"Boghossian","sequence":"first","affiliation":[{"name":"Department of Epidemiology and Biostatistics Arnold School of Public Health University of South Carolina Columbia South Carolina"},{"name":"Division of Intramural Population Health Research <i>Eunice Kennedy Shriver<\/i> National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert 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Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte M.","family":"Druschel","sequence":"additional","affiliation":[{"name":"Department of Health Congenital Malformations Registry Albany New York"},{"name":"University at Albany School of Public Health Rensselaer New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul A.","family":"Romitti","sequence":"additional","affiliation":[{"name":"Department of Epidemiology College of Public Health The University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn L.","family":"Browne","sequence":"additional","affiliation":[{"name":"Department of Health Congenital Malformations Registry Albany New York"},{"name":"University at Albany School of Public Health Rensselaer New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruzong","family":"Fan","sequence":"additional","affiliation":[{"name":"Division of Intramural Population 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