{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T20:07:10Z","timestamp":1779912430372,"version":"3.53.1"},"reference-count":34,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,10,4]],"date-time":"2018-10-04T00:00:00Z","timestamp":1538611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01 DK105068"],"award-info":[{"award-number":["R01 DK105068"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Prune Belly Syndrome (PBS) is a congenital multisystem myopathy with mild to lethal severity. While of uncertain etiology, 95% male predominance and familial occurrence suggest a genetic basis. As copy number variations (CNVs) can cause unexplained genetic disorders, we tested for novel CNVs in a large PBS population. We genotyped 21 unrelated PBS patients by high\u2010resolution array comparative genomic hybridization (aCGH) and phenotyped using a novel PBS severity scoring system. Available parents were screened for detected CNV via quantitative PCR (qPCR). We additionally screened for recurrence of identified novel candidate CNVs on 106 PBS probands by qPCR. We identified 10 CNVs in 8 of 21 PBS patients tested (38%). Testing confirmed inheritance from an unaffected biological parent in six patients; parental samples were unavailable in two probands. One candidate CNV includes duplication of the X\u2010chromosome <jats:italic>AGTR2<\/jats:italic> gene, known to function in urinary tract development. Subsequent screening of the larger PBS cohort did not identify any recurrent CNVs. Presence of CNV did not correlate with PBS severity scoring. CNVs were uncommon in this large PBS population, but analysis of identified variants may inform disease pathogenesis and reveal targets for therapeutic intervention for this rare, severe disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.40476","type":"journal-article","created":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T23:42:59Z","timestamp":1538782979000},"page":"2276-2283","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Copy number variations in a population with prune belly syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3305-2352","authenticated-orcid":false,"given":"Nida S.","family":"Iqbal","sequence":"first","affiliation":[{"name":"University of Texas Southwestern Medical Center at Dallas, Children's Health, Center for Pediatric Urology  Dallas TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas A.","family":"Jascur","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center at Dallas, Children's Health, Center for Pediatric Urology  Dallas TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Harrison","sequence":"additional","affiliation":[{"name":"The Broad Institute of MIT and Harvard  Cambridge MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Chen","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center at Dallas, Children's Health, Center for Pediatric Urology  Dallas TX"},{"name":"Phoenix Children's Medical Group  Phoenix AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle K.","family":"Arevalo","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center at Dallas, Children's Health, Center for Pediatric Urology  Dallas TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Wong","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center at Dallas, Children's Health, Center for Pediatric Urology  Dallas TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Phoenix Children's Medical Group  Phoenix AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwen","family":"Grimsby","sequence":"additional","affiliation":[{"name":"Phoenix Children's Medical Group  Phoenix AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Wilson","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center at Dallas, Children's Health, Center for Pediatric Urology  Dallas TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda A.","family":"Baker","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center at Dallas, Children's Health, Center for Pediatric Urology  Dallas TX"},{"name":"Phoenix Children's Medical Group  Phoenix AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970370025005"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(72)90003-2"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230406"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-4295(00)00452-0"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.11.008"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2014.02.010"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-4737-2_14"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.192"},{"issue":"5","key":"e_1_2_7_10_1","first-page":"239","article-title":"Prenatal diagnosis of prune belly syndrome occurring in siblings in 2 consecutive pregnancies","volume":"188","author":"Feige A.","year":"1984","journal-title":"Zeitschrift f\u00fcr Geburtshilfe und Perinatologie"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150120"},{"issue":"2","key":"e_1_2_7_13_1","first-page":"127","article-title":"Prune\u2010belly anomaly and large interstitial deletion of the long arm of chromosome 6","volume":"34","author":"Fryns J. P.","year":"1991","journal-title":"Annales de G\u00e9n\u00e9tique"},{"issue":"3","key":"e_1_2_7_14_1","first-page":"283","article-title":"Prune\u2010belly syndrome: Report of three siblings","volume":"37","author":"Gaboardi F.","year":"1982","journal-title":"Helvetica Paediatrica Acta"},{"issue":"8","key":"e_1_2_7_15_1","first-page":"173","article-title":"Prune belly syndrome. Possible genetic implications","volume":"10","author":"Garlinger P.","year":"1974","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.256"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2011.09.036"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2015.06.005"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1248943"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.011"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)60675-X"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-410x.1999.00923.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-004-1260-2"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(79)90145-6"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970060507"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn169"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973353"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.4.266"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35206"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.urology.2009.12.072"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513815.2012.659411"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004258"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.007"},{"key":"e_1_2_7_35_1","article-title":"Phenotypic severity scoring system and categorization for prune belly syndrome: Application to a pilot cohort of 50 living patients","author":"Wong D.","journal-title":"BJU International"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.40476","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40476","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T13:13:57Z","timestamp":1694697237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40476"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,4]]},"references-count":34,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/ajmg.a.40476"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40476","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,4]]},"assertion":[{"value":"2018-02-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}