{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:42:55Z","timestamp":1789897375331,"version":"4.0.1"},"reference-count":32,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T00:00:00Z","timestamp":1280793600000},"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":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Little is known about genes that underlie isolated single\u2010suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single\u2010suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single\u2010suture craniosynostosis for submicroscopic deletions and duplications. We identified a 1.1\u2009Mb duplication encompassing <jats:italic>RUNX2<\/jats:italic> in two affected cousins with metopic synostosis and hypodontia. Given that RUNX2 is required as a master switch for osteoblast differentiation and interacts with TWIST1, mutations in which also cause craniosynostosis, we conclude that the duplication in this family is pathogenic, albeit with reduced penetrance. In addition, we find that a total of 7.5% of individuals with single\u2010suture synostosis in our series have at least one rare deletion or duplication that contains genes and that has not been previously reported in unaffected individuals. The genes within and disrupted by CNVs in this cohort are potential novel candidate genes for craniosynostosis. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33557","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T22:03:47Z","timestamp":1280873027000},"page":"2203-2210","source":"Crossref","is-referenced-by-count":70,"title":["Copy number variation analysis in single\u2010suture craniosynostosis: Multiple rare variants including <i>RUNX2<\/i> duplication in two cousins with metopic craniosynostosis"],"prefix":"10.1002","volume":"152A","author":[{"given":"Heather C.","family":"Mefford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Shafer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Antonacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse M.","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah S.","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne V.","family":"Hing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Rieder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew D.","family":"Smyth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew L.","family":"Speltz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Cunningham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,3]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Bayley Scales of Infant Development","author":"Bayley N","year":"1993"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(04)00058-9"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30422"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32208"},{"key":"e_1_2_6_6_1","volume-title":"Craniosynotosis: Diagnosis, Evaluation, Management","author":"Cohen MJ","year":"2000"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm076"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20231"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm096"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-42"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0895-4356(90)90058-W"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-36"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.014"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.057042"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1079"},{"key":"e_1_2_6_17_1","first-page":"1274","article-title":"Minor malformations: Significant or insignificant","volume":"142","author":"Leppig KA","year":"1988","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevEukaryotGeneExpr.v14.i12.10"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2294592"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.094987.109"},{"key":"e_1_2_6_21_1","first-page":"449","article-title":"Trisomy 1q43 syndrome: A consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies","volume":"15","author":"Morava E","year":"2004","journal-title":"Genet Couns"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000122202.26792.BF"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000079826.24086.CD"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31845"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1159\/000115035"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201613"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2000.92.4.0631"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20243"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31630"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.prs.0000259184.88265.3f"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31366"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.2001"}],"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.33557","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33557","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T05:59:34Z","timestamp":1697608774000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,3]]},"references-count":32,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1002\/ajmg.a.33557"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33557","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,3]]}}}