{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:04:32Z","timestamp":1762430672623},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,9,10]],"date-time":"2012-09-10T00:00:00Z","timestamp":1347235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cleft palate (CP) is a frequent and recognizable birth defect attributed to a variety of etiologies including genetic abnormalities and environmental exposures. Bone morphogenetic proteins (BMPs) are involved in embryonic signaling important for a number of developmental processes including bone formation and palate morphogenesis. Recently, haploinsufficiency of <jats:italic>BMP2<\/jats:italic> was associated with syndromic forms of CP. Here, we report on a multigenerational family with a history of CP as a result of a 2.3\u2009Mb deletion of chromosome 20p12.3, including the <jats:italic>BMP2<\/jats:italic> gene. In addition to a submucous CP, the proband's clinical phenotype included failure to thrive (FTT), global developmental delays (DD), and dysmorphic features. The affected father exhibited an overt CP, with a facial gestalt and minor dysmorphic features similar to the proband. The father was otherwise healthy with no history of FTT or DD, suggesting high penetrance, yet variable expressivity for haploinsufficiency of <jats:italic>BMP2<\/jats:italic>. The findings presented here provide further evidence for the role of <jats:italic>BMP2<\/jats:italic> in syndromic forms of CP. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35594","type":"journal-article","created":{"date-parts":[[2012,9,10]],"date-time":"2012-09-10T20:19:14Z","timestamp":1347308354000},"page":"2616-2620","source":"Crossref","is-referenced-by-count":20,"title":["Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving <i>BMP2<\/i>"],"prefix":"10.1002","volume":"158A","author":[{"given":"Eli S.","family":"Williams","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim A.","family":"Uhas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian P.","family":"Bunke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn B.","family":"Garber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christa L.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.729"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318177015c"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.2.391"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2010.10.003"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<42::AID-AJMG11>3.0.CO;2-M"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.11.2203"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32854"},{"key":"e_1_2_6_9_1","first-page":"16","article-title":"Etiology of facial clefts: Prospective evaluation of 428 patients","volume":"25","author":"Jones MC","year":"1988","journal-title":"Cleft Palate J"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.17.12590"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20863"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq238"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061002"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.07.012"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)00148-3"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.109.4.833"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-16-07077.1999"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.101109698"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282358d21"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34063"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22469"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390113"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.082545"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.150.3698.893"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-09-03314.1998"}],"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.35594","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35594","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:22:22Z","timestamp":1697635342000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35594"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,10]]},"references-count":24,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/ajmg.a.35594"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35594","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,10]]}}}