{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:35:29Z","timestamp":1792416929969,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T00:00:00Z","timestamp":1698105600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thauvin\u2010Robinet\u2010Faivre syndrome (#617107) is a rare autosomal recessive overgrowth syndrome characterized by intellectual disability, facial dysmorphism, macrocephaly, and variable congenital malformations. It is caused by homozygous or compound heterozygous <jats:italic>FIBP<\/jats:italic> gene mutations. The <jats:italic>FIBP<\/jats:italic> gene is located on the 11q13.1 region and codes the acidic fibroblast growth factor intracellular binding protein, which is involved in the fibroblast growth factor (FGF) signaling pathway. FGF signaling is required for neurogenesis and neuronal precursor proliferation. The FGF controls cell proliferation, differentiation, and migration in embryonic development and in adult life. Overgrowth syndromes consist of a wide spectrum disorders characterized by prenatal and postnatal excess growth in weight and length, often associated malformations, intellectual disability, and neoplastic predisposition. Embryonic tumors are especially common in these syndromes. Thauvin\u2010Robinet\u2010Faivre syndrome is a recently described overgrowth syndrome with typical facial dysmorphic and clinical features. To date, only four patients have been reported with this disorder. Herein, two new cases of Thauvin\u2010Robinet\u2010Faivre syndrome are reported with overgrowth, intellectual disability, typical dysmorphic signs in one dysplastic kidney, and a novel homozygous <jats:italic>FIBP<\/jats:italic> gene variant. Exome sequencing analysis showed that both affected siblings share the same homozygous c. 412\u20103_415dupCAGTTTG <jats:italic>FIBP<\/jats:italic> gene variant. Reporting two new cases with this rare autosomal recessive overgrowth syndrome with a novel <jats:italic>FIBP<\/jats:italic> gene variant will support and expand the clinical spectrum of Thauvin\u2010Robinet\u2010Faivre syndrome. Also discussed will be the function of <jats:italic>FIBP<\/jats:italic> in tumorigenesis and the possible renal tumor susceptibility in heterozygous carriers will be emphasized.<\/jats:p>","DOI":"10.1002\/ajmg.a.63449","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T05:40:27Z","timestamp":1698212427000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["New cases of recently described <scp>Thauvin\u2010Robinet\u2010Faivre<\/scp> syndrome with a novel homozygous <i>FIBP<\/i> gene variant"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0522-1809","authenticated-orcid":false,"given":"Esra","family":"K\u0131l\u0131\u00e7","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics University of Health Sciences, Ankara Bilkent City Children's Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6129-0510","authenticated-orcid":false,"given":"Can","family":"Ko\u015fukcu","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Hacettepe University Institute of Health Sciences  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37741"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi200986f"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4800-10.2011"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41389-018-0088-9"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.574857"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3520629"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3360213"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12704"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63449","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T09:55:44Z","timestamp":1707818144000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,24]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ajmg.a.63449"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63449","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,24]]},"assertion":[{"value":"2023-01-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63449"}}