{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:43:19Z","timestamp":1767339799553},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,2,13]],"date-time":"2007-02-13T00:00:00Z","timestamp":1171324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:p><jats:bold>ABSTRACT\u2003<\/jats:bold> Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the <jats:italic>ephrin\u2010B1<\/jats:italic> gene (<jats:italic>EFNB1<\/jats:italic>). The study of naturally occurring human <jats:italic>EFNB1<\/jats:italic> mutations offers a unique opportunity to better define the critical portion within the ephrin domain that is essential for the function of EFNB1 protein in craniofacial development. Here, we report a CFNS patient with a novel <jats:italic>EFNB1<\/jats:italic> missense mutation present at the interface between EFNB1 and its receptor proteins. The patient\u2019s facial features included hypertelorism, a broad nasal tip, brachycephaly, frontal bossing, facial asymmetry and esotropia. In addition, she had pectus carinatum, grooved nails on her thumb, an abnormal palmar crease pattern and a broad first toe. Her development was appropriate for her age. Direct sequencing of polymerase chain reaction products using an autosequencer revealed a heterozygous missense mutation, Ser118Ile. Ser118 is located in the G\u2010H loop of the extracellular ephrin domain and is highly evolutionarily conserved among rodents, avians and fish. The mutation occurred <jats:italic>de novo<\/jats:italic> and was not present in 100 normal Japanese control subjects. Substitutions of the adjacent amino acid residue, Pro119, have been previously reported in three CFNS patients. Since the structure of EFNB1 is not yet available, the spatial locality of Ser118 was characterized using the protein structure of EFNB2. We deduced that Ser118 in EFNB1 resides at the major dimerization interface with Eph receptors and inferred that the Ser118Ile mutation may impede the protrusion of the G\u2010H loop, thereby disturbing Eph\u2013Ephrin signal transduction.<\/jats:p>","DOI":"10.1111\/j.1741-4520.2006.00140.x","type":"journal-article","created":{"date-parts":[[2007,2,13]],"date-time":"2007-02-13T23:51:19Z","timestamp":1171410679000},"page":"49-52","source":"Crossref","is-referenced-by-count":10,"title":["<i>EFNB1<\/i> mutation at the ephrin ligand\u2010receptor dimerization interface in a patient with craniofrontonasal syndrome"],"prefix":"10.1111","volume":"47","author":[{"given":"Chiharu","family":"Torii","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideo","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,2,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06685.x"},{"key":"e_1_2_6_3_1","first-page":"85","article-title":"Craniofrontonasal dysplasia","volume":"15","author":"Cohen MM","year":"1979","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/414933a"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2004.07.002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresrev.2005.02.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl052"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi050789w"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1662"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2004.09.006"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1597\/05-014.1"},{"key":"e_1_2_6_13_1","first-page":"75","article-title":"Frontonasal dysplasia with coronal craniosynostosis in three sibs","volume":"15","author":"Slover R","year":"1979","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2004.09.002"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(01)00002-8"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402819101"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/504440"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.017"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000071605"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/421532"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20193"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1741-4520.2006.00140.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1741-4520.2006.00140.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T14:13:12Z","timestamp":1697379192000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2006.00140.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2,13]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,3]]}},"alternative-id":["10.1111\/j.1741-4520.2006.00140.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1741-4520.2006.00140.x","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2,13]]}}}