{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T15:32:27Z","timestamp":1769095947336,"version":"3.49.0"},"reference-count":4,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,22]],"date-time":"2015-06-22T00:00:00Z","timestamp":1434931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012280","name":"Rare Disease Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012280","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Craniosynostosis is a clinically and genetically heterogeneous condition. Knowledge of the specific genetic diagnosis in patients presenting with this condition is important for surgical and medical management. The most common single gene causes of syndromic craniosynostosis are mutations in <jats:italic>FGFR1<\/jats:italic>, <jats:italic>FGFR2<\/jats:italic>, <jats:italic>FGFR3<\/jats:italic>, <jats:italic>TWIST1<\/jats:italic>, and <jats:italic>EFNB1<\/jats:italic>. Recently, a new single gene cause of craniosynostosis was published, together with phenotype data that highlight the clinical importance of making this specific molecular diagnosis. Phenotypic features of \u201c<jats:italic>ERF<\/jats:italic>\u2010related craniosynostosis\u201d include sagittal or multiple\u2010suture synostosis, Chiari malformation, and language delay. In order to determine the contribution of <jats:italic>ERF<\/jats:italic> mutations to genetically undiagnosed patients with craniosynostosis, we sequenced the coding regions of <jats:italic>ERF<\/jats:italic> in 40 patients with multi\u2010suture or sagittal suture synostosis. We identified heterozygous <jats:italic>ERF<\/jats:italic> mutations in two individuals (5%). One mutation positive individual had pansynostosis, while the second had bilateral coronal and metopic synostosis. Both presented in infancy or childhood (age 3 months, and 6 years 9 months, respectively). One had CNS abnormalities including Chiari I malformation. Dysmorphic features included hypertelorism, proptosis, depressed nasal bridge, and retrognathia, in keeping with previously reported cases. The individuals did not require repeated cranial surgeries. <jats:italic>ERF<\/jats:italic>\u2010related craniosynostosis should be suspected in patients presenting with multiple suture or sagittal synostosis. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37218","type":"journal-article","created":{"date-parts":[[2015,6,22]],"date-time":"2015-06-22T05:25:21Z","timestamp":1434950721000},"page":"2544-2547","source":"Crossref","is-referenced-by-count":28,"title":["Heterozygous mutations in <i>ERF<\/i> cause syndromic craniosynostosis with multiple suture involvement"],"prefix":"10.1002","volume":"167","author":[{"given":"Ayeshah","family":"Chaudhry","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Sabatini","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Paediatric Laboratory Medicine The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Han","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Paediatric Laboratory Medicine The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter N.","family":"Ray","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Paediatric Laboratory Medicine The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Forrest","sequence":"additional","affiliation":[{"name":"Division of Plastic and Reconstructive Surgery Centre for Craniofacial Careand Research The Hospital for Sick Children"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Bowdin","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.235"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.205"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2539"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-3491"}],"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.37218","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37218","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:58:06Z","timestamp":1696625886000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,22]]},"references-count":4,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/ajmg.a.37218"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37218","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,22]]}}}