{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:42:15Z","timestamp":1761061335256,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T00:00:00Z","timestamp":1619308800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Craniosynostosis is one of the most common craniofacial abnormalities. It involves premature closure of one or more cranial sutures. Mutations in many genes have been and continue to be identified in patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Settings and sample population<\/jats:title><jats:p>Whole blood samples were collected from the patient and family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>Whole exome sequencing was performed to identify potential mutations in the patient. The results were verified by Sanger sequencing by comparing <jats:italic>SPECC1L<\/jats:italic> gene sequence of blood samples from 100 unrelated population\u2010matched controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with craniosynostosis with fusion of the bicoronal and sagittal sutures. A novel missense mutation (c.2612C&gt;T, p.Pro871Leu) in the <jats:italic>SPECC1L<\/jats:italic> gene was identified. Gene analysis showed a missense mutation in exon1 of <jats:italic>SPECC1L<\/jats:italic> that led to an amino acid substitution in the region between coiled\u2010coil domain 3 and calponin homology domain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our observations expand the molecular spectrum of gene mutations in craniosynostosis and emphasize the importance of gene testing in the diagnosis of craniosynostosis. The observations also reinforce the characteristics of <jats:italic>SPECC1L\u2010<\/jats:italic>related cranial disorders.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ocr.12473","type":"journal-article","created":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T23:20:40Z","timestamp":1612394440000},"page":"480-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel p.Pro871Leu missense mutation in <i>SPECC1L<\/i> gene causing craniosynostosis in a patient"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1065-7730","authenticated-orcid":false,"given":"Shanshan","family":"Bai","sequence":"first","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Shanghai 9th People\u2019s Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingnan","family":"Geng","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Shanghai 9th People\u2019s Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huichuan","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Shanghai 9th People\u2019s Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Shanghai 9th People\u2019s Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheyuan","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Shanghai 9th People\u2019s Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3009-168X","authenticated-orcid":false,"given":"Jie","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Shanghai 9th People\u2019s Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Shanghai 9th People\u2019s Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000005419"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-017-0423-4"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.4038\/slja.v27i1.8378"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuchi.2019.09.009"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.29183"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuchi.2019.10.003"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2019.01.018"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0000000000004374"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3340\/jkns.2016.59.3.187"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000542"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-11-485"},{"key":"e_1_2_9_13_1","doi-asserted-by":"crossref","first-page":"4003","DOI":"10.1093\/bioinformatics\/btv506","article-title":"BigBWA: approaching the burrows\u2010wheeler aligner to big data technologies","volume":"24","author":"Abu\u00edn JM","year":"2015","journal-title":"Bioinformatics"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.115.017012"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.50"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0308-256b"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt477"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt384"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000006581"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-013-2235-0"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2017.7397"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.12669\/pjms.333.12878"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.023"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102677"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37217"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61427"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.11.022"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep17735"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa002"}],"container-title":["Orthodontics &amp; Craniofacial Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ocr.12473","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ocr.12473","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ocr.12473","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T16:55:01Z","timestamp":1693328101000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ocr.12473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,25]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1111\/ocr.12473"],"URL":"https:\/\/doi.org\/10.1111\/ocr.12473","archive":["Portico"],"relation":{},"ISSN":["1601-6335","1601-6343"],"issn-type":[{"type":"print","value":"1601-6335"},{"type":"electronic","value":"1601-6343"}],"subject":[],"published":{"date-parts":[[2021,4,25]]},"assertion":[{"value":"2020-04-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}