{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:39:37Z","timestamp":1790710777140,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T00:00:00Z","timestamp":1695254400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T00:00:00Z","timestamp":1695254400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004505","name":"Universit\u00e0 degli Studi di Catania","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004505","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neuromol Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G\u2009&gt;\u2009A de novo variant in the <jats:italic>FGFR2<\/jats:italic> gene, determining a missense mutation. <jats:italic>FGFR2<\/jats:italic> encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes. The mutated version of this protein is known to be responsible for several variable overlapping syndromes. Even if there still is only sparse and anecdotal data, recent research highlighted a potential role of <jats:italic>FGFR2<\/jats:italic> on neurodevelopment. Our findings provide new insights into the potential causative role of <jats:italic>FGFR2<\/jats:italic> gene in complex neurodevelopmental disorders.<\/jats:p>","DOI":"10.1007\/s12017-023-08759-w","type":"journal-article","created":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T09:02:23Z","timestamp":1695286943000},"page":"650-656","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder"],"prefix":"10.1007","volume":"25","author":[{"given":"Antonio Gennaro","family":"Nicotera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greta","family":"Amore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Concetta","family":"Saia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Vinci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Chiavetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Federico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Spoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Saccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Di Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cal\u00ec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,9,21]]},"reference":[{"key":"8759_CR1","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.7150\/ijbs.22373","volume":"13","author":"SC Azoury","year":"2017","unstructured":"Azoury, S. C., Reddy, S., Shukla, V., & Deng, C. X. (2017). Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. International Journal of Biological Sciences, 13, 1479\u20131488. https:\/\/doi.org\/10.7150\/ijbs.22373","journal-title":"International Journal of Biological Sciences"},{"key":"8759_CR2","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.ejmg.2016.11.001","volume":"60","author":"F Cal\u00ec","year":"2017","unstructured":"Cal\u00ec, F., Chiavetta, V., Ruggeri, G., Piccione, M., Selicorni, A., Palazzo, D., Bonsignore, M., Cereda, A., Elia, M., Failla, P., Figura, M. G., Fiumara, A., Maitz, S., Luana Mandar\u00e0, G. M., Mattina, T., Ragalmuto, A., Romano, C., Ruggieri, M., Salluzzo, R., \u2026 Romano, V. (2017). Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using IonTorrent PGM\u2122 platform. European Journal of Medical Genetics, 60, 93\u201399. https:\/\/doi.org\/10.1016\/j.ejmg.2016.11.001","journal-title":"European Journal of Medical Genetics"},{"key":"8759_CR3","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1159\/000471501","volume":"151","author":"EG Coci","year":"2017","unstructured":"Coci, E. G., Auhuber, A., Langenbach, A., Mrasek, K., Riedel, J., Leenen, A., L\u00fccke, T., & Liehr, T. (2017). Novel unbalanced translocations affecting the long arms of chromosomes 10 and 22 cause complex syndromes with very severe neurodevelopmental delay, speech impairment, autistic behavior, and epilepsy. Cytogenetic and Genome Research, 151, 171\u2013178. https:\/\/doi.org\/10.1159\/000471501","journal-title":"Cytogenetic and Genome Research"},{"key":"8759_CR4","doi-asserted-by":"publisher","first-page":"102170","DOI":"10.1016\/j.ctrv.2021.102170","volume":"95","author":"L Goyal","year":"2021","unstructured":"Goyal, L., Kongpetch, S., Crolley, V. E., & Bridgewater, J. (2021). Targeting FGFR inhibition in cholangiocarcinoma. Cancer Treatment Reviews, 95, 102170. https:\/\/doi.org\/10.1016\/j.ctrv.2021.102170","journal-title":"Cancer Treatment Reviews"},{"key":"8759_CR5","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1111\/pde.15176","volume":"40","author":"I Gracia-Darder","year":"2023","unstructured":"Gracia-Darder, I., Llull Ramos, A., Giacaman, A., G\u00f3mez Bellvert, C., Obrador-Hevia, A., Jubert Esteve, E., & Mart\u00edn-Santiago, A. (2023). Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation. Pediatric Dermatology, 40, 382\u2013384. https:\/\/doi.org\/10.1111\/pde.15176","journal-title":"Pediatric Dermatology"},{"key":"8759_CR6","doi-asserted-by":"publisher","unstructured":"Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., ... & B\u00f8rglum, A. D. (2019). Identification of common genetic risk variants for autism spectrum disorder. 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The study was conducted in accordance with the Declaration of Helsinki and approved by the local Ethics Committee \u201cComitato Etico IRCCS Sicilia\u2014Oasi Maria SS\u201d. On 05 April 2022, approval code: CE193, 2022-04-05-CEIRCCS\/52.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consent was obtained from the parents of the subject.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}