{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:11:08Z","timestamp":1777522268494,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:p>Craniofrontonasal syndrome is mainly characterized by frontonasal dysplasia, telorbitism, a broad nasal root, and frequently a bifid nose and coronal craniosynostosis. Craniofrontonasal syndrome is an X-linked disorder with an unusual pattern of inheritance because heterozygous females are more severely affected than hemizygous males. The craniofrontonasal syndrome\u2013causing gene is EFNB1, localized in the border region of chromosome Xq12 and Xq13.1, encoding for protein ephrin-B1. Here we aim to investigate the underlying genetic defect of a young girl with craniofrontonasal syndrome. The patient underwent surgical correction of her craniofacial deformities. Genetic analysis was carried out by polymerase chain reaction. Products of exon 2 of the EFNB1 gene were sequenced as well as digested with BpmI enzyme. A novel de novo missense mutation 373G&gt;A was identified within the EFNB1 gene, leading to the replacement of glutamic acid at amino acid position 125 with lysine. The replacement of Glu125 with Lys, which lies within the G-H loop, part of the dimerization ligand-receptor interface, is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome.<\/jats:p>","DOI":"10.1597\/10-247","type":"journal-article","created":{"date-parts":[[2011,2,28]],"date-time":"2011-02-28T05:38:12Z","timestamp":1298871492000},"page":"109-113","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["A Novel\n                    <i>de Novo<\/i>\n                    Mutation Within\n                    <i>EFNB1<\/i>\n                    Gene in a Young Girl with Craniofrontonasal Syndrome"],"prefix":"10.1177","volume":"49","author":[{"given":"Despina","family":"Apostolopoulou","sequence":"first","affiliation":[{"name":"Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece; Department of Genetics and Molecular Biology, and Member, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Stratoudakis","sequence":"additional","affiliation":[{"name":"Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angeliki","family":"Hatzaki","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, and Member, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga S.","family":"Kaxira","sequence":"additional","affiliation":[{"name":"Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece, and Ph.D. student."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanaris P.","family":"Panagopoulos","sequence":"additional","affiliation":[{"name":"YGEIA General Hospital, Athens, Greece, and Member, Hellenic Craniofacial Center, MITERA General, Maternity and Children Hospital, Athens, Greece."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panagoula","family":"Kollia","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassiliki","family":"Aleporou","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biotechnology, Faculty of Biology, School of Physical Sciences, National and Kapodistrian University of Athens, Athens, Greece."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,1,1]]},"reference":[{"key":"bibr1-10-247","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1630408"},{"key":"bibr2-10-247","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0040315"},{"key":"bibr3-10-247","doi-asserted-by":"publisher","DOI":"10.7150\/ijms.5.263"},{"key":"bibr4-10-247","unstructured":"Human Genome Mutation Database (HGMD). Available at http:\/\/www.hgmd.cf.ac.uk\/ac\/all.php. Accessed January 8, 2010."},{"key":"bibr5-10-247","unstructured":"GenBank (for human EFNB1 [accession number NC000023], EFNB1 cDNA [accession number NM_004429]). Available at http:\/\/www.ncbi.nlm.nih.gov\/Genbank\/. Accessed March 7, 2011."},{"key":"bibr6-10-247","doi-asserted-by":"publisher","DOI":"10.1038\/414933a"},{"key":"bibr7-10-247","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33596"},{"key":"bibr8-10-247","doi-asserted-by":"publisher","DOI":"10.1038\/nrm856"},{"key":"bibr9-10-247","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1093703"},{"key":"bibr10-10-247","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2006.00140.x"},{"key":"bibr11-10-247","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402819101"},{"key":"bibr12-10-247","doi-asserted-by":"publisher","DOI":"10.1086\/504440"},{"key":"bibr13-10-247","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32388"},{"key":"bibr14-10-247","doi-asserted-by":"publisher","DOI":"10.1086\/421532"},{"key":"bibr15-10-247","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201968"},{"key":"bibr16-10-247","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20193"},{"key":"bibr17-10-247","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00905.x"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/10-247","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/10-247","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/10-247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:16:53Z","timestamp":1777393013000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/10-247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1597\/10-247"],"URL":"https:\/\/doi.org\/10.1597\/10-247","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}