{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:52:32Z","timestamp":1791035552784,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2006,10,4]],"date-time":"2006-10-04T00:00:00Z","timestamp":1159920000000},"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":[[2006,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The core binding factor beta gene (<jats:italic>CBFB<\/jats:italic>), essential to bone morphogenesis, is located at 16q22.1. Homozygous deficiency of <jats:italic>CBFB<\/jats:italic> leads to ossification defects in mice. <jats:italic>CBFB<\/jats:italic> forms a heterodimer with <jats:italic>RUNX2<\/jats:italic> (<jats:italic>CBFA1<\/jats:italic>) during embryonic bone development. <jats:italic>RUNX2<\/jats:italic> mutations lead to cleidocranial dysplasia in humans. We describe an infant boy with an interstitial deletion of 16q21q22, delayed skull ossification, cleft palate, and heart anomalies who had a difficult course in infancy but eventually improved and is healthy. He was found to have <jats:italic>CBFB<\/jats:italic> haploinsufficiency, but did not have mutations in <jats:italic>RUNX2<\/jats:italic>. We suggest that 16q21q22 deletion be considered when there are antenatal or postnatal findings of enlarged cranial sutures with or without cleft palate. The finding of <jats:italic>CBFB<\/jats:italic> haploinsufficiency in our case and the similarity of cranial ossification defects with a mouse model of <jats:italic>CBFB<\/jats:italic> deletion suggest a role for <jats:italic>CBFB<\/jats:italic> in cranial bone development in humans. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31479","type":"journal-article","created":{"date-parts":[[2006,10,4]],"date-time":"2006-10-04T21:58:12Z","timestamp":1159999092000},"page":"2349-2354","source":"Crossref","is-referenced-by-count":26,"title":["Core binding factor beta (<i>CBFB<\/i>) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Aneal","family":"Khan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Katherine","family":"Hyde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amalia","family":"Dutra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Mohide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,10,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.828"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/excr.1996.0075"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V89.7.2359"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00402162"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278910"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430311"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2004.00043.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-9796(03)00032-9"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10388"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.174.5.2627"},{"key":"e_1_2_5_12_1","first-page":"193","article-title":"Requisite roles of Runx2 and Cbfb in skeletal development","volume":"21","author":"Komori T","year":"2003","journal-title":"J Bone Miner Metab"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80258-5"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-9796(03)00030-5"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1050"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1519"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00690-6"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2003.12.079"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8351518"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/431654"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.4.1364"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10043"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevEukarGeneExpr.v5.i3-4.60"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.76.10.4919-4927.2002"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M007350200"},{"key":"e_1_2_5_26_1","first-page":"A127","article-title":"Heritable deletion of band 16q21 with normal phenotype: Relationship to late replicating DNA","volume":"43","author":"Witt D","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1232420100"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.916"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1015"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1174704"}],"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.31479","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31479","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T21:55:57Z","timestamp":1696974957000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,4]]},"references-count":29,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2006,11]]}},"alternative-id":["10.1002\/ajmg.a.31479"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31479","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,4]]}}}