{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:26:26Z","timestamp":1791206786842,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,10,28]],"date-time":"2011-10-28T00:00:00Z","timestamp":1319760000000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniosynostosis is the premature fusion of one or more sutures of the skull, which can be syndromic or isolated. Mutations in <jats:italic>FGFR1<\/jats:italic>, <jats:italic>FGFR2<\/jats:italic>, or <jats:italic>FGFR3<\/jats:italic>, among others, are often responsible for these syndromic cases. The associated of <jats:italic>FGFR3<\/jats:italic> mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. Other <jats:italic>FGFR3<\/jats:italic> mutations result in various skeletal dysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Here, we report a novel mutation in exon 8 (IIIc) of <jats:italic>FGFR3<\/jats:italic>, p.Ala334Thr, in a young boy with mild craniosynostosis. The mutation segregated with mild craniosynostosis in the family and was absent in 188 normal controls. Alanine 334 is evolutionarily conserved in vertebrates and is located at the amino terminus of the \u03b2F loop in the FGFR3c isoform. The mutation is predicted to alter the protein tertiary structure which may impair its binding to its ligand, FGF1. The identification of a mutation in these clinically heterogeneous disorders can aid recurrence risk assessments. Although the implementation of a stepwise screening strategy is useful in diagnostics, mutations in unscreened regions of genes associated with craniosynostosis may explain a small proportion of craniosynostosis cases. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34199","type":"journal-article","created":{"date-parts":[[2011,10,28]],"date-time":"2011-10-28T17:29:26Z","timestamp":1319822966000},"page":"3050-3053","source":"Crossref","is-referenced-by-count":14,"title":["Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr"],"prefix":"10.1002","volume":"155","author":[{"given":"Eva","family":"Barroso","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"P\u00e9rez\u2010Carrizosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Garc\u00eda\u2010Recuero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc J.","family":"Glucksman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew O.","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sixto","family":"Garc\u00eda\u2010Minaur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsb1295-1068"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200102)21:2<89::AID-PD21>3.0.CO;2-9"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp550"},{"key":"e_1_2_7_5_1","first-page":"1","article-title":"Craniosynostosis","author":"Johnson D","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_7_6_1","first-page":"555","article-title":"A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome","volume":"60","author":"Muenke M","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0307287101"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<237::AID-AJMG5>3.0.CO;2-M"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000115035"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.4.509"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.11.1361"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.10.764"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/508433"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.9.744"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31905"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-3491"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.2000.2.1.9"}],"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.34199","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34199","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:14:20Z","timestamp":1697638460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,28]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1002\/ajmg.a.34199"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34199","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,28]]}}}