{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T07:05:32Z","timestamp":1768201532321,"version":"3.49.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,10,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0730_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0730_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Here, we report a girl and her mother with KS caused by a novel mutation in the fibroblast growth factor receptor 1 gene (<jats:italic>FGFR1<\/jats:italic>). Interestingly, the daughter presented syndactyly and oligodactyly of the feet.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0730_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The presence of bone malformations in a KS patient should direct the geneticist towards a search for specific mutations in <jats:italic>FGFR1<\/jats:italic>. Our finding contributes to enrich the spectrum of <jats:italic>FGFR1<\/jats:italic> mutations in patients with KS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0730","type":"journal-article","created":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T08:53:26Z","timestamp":1659689606000},"page":"1306-1308","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel mutation in <i>FGFR1<\/i> gene in mother and daughter with Kallmann syndrome"],"prefix":"10.1515","volume":"35","author":[{"given":"Emilio","family":"Garc\u00eda-Garc\u00eda","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology Unit , Virgen del Roc\u00edo University Hospital , Sevilla , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel M.","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction , Virgen del Roc\u00edo University Hospital , Sevilla , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constanza","family":"Navarro-Moreno","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit , Virgen del Roc\u00edo University Hospital , Sevilla , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana L.","family":"G\u00f3mez-Gila","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit , Virgen del Roc\u00edo University Hospital , Sevilla , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salud","family":"Borrego","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction , Virgen del Roc\u00edo University Hospital , Sevilla , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,8,8]]},"reference":[{"key":"2023040100332864134_j_jpem-2021-0730_ref_001","doi-asserted-by":"crossref","unstructured":"Lima Amato, LG, Latronico, AC, Gontijo Silveira, LF. Molecular and genetic aspects of congenital isolated hypogonadotropic hypogonadism. Endocrinol Metab Clin N Am 2017;46:283\u2013303. https:\/\/doi.org\/10.1016\/j.ecl.2017.01.010.","DOI":"10.1016\/j.ecl.2017.01.010"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_002","doi-asserted-by":"crossref","unstructured":"Young, J, Xu, C, Papadakis, GE, Acierno, JS, Maione, L, Hietam\u00e4ki, J, et al.. Clinical management of congenital hypogonadotropic hypogonadism. Endocr Rev 2019;40:669\u2013710. https:\/\/doi.org\/10.1210\/er.2018-00116.","DOI":"10.1210\/er.2018-00116"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_003","doi-asserted-by":"crossref","unstructured":"Dod\u00e9, C, Levilliers, J, Dupont, JM, De Paepe, A, Le Da\u0192a, N, Soussi-Yanicostas, N, et al.. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003;33:463\u20135. https:\/\/doi.org\/10.1038\/ng1122.","DOI":"10.1038\/ng1122"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_004","doi-asserted-by":"crossref","unstructured":"Sargar, KM, Singh, AK, Kao, SC. Imaging of skeletal disorders caused by fibroblast growth factor receptor gene mutations. Radiographics 2017;37:1813\u201330. https:\/\/doi.org\/10.1148\/rg.2017170017.","DOI":"10.1148\/rg.2017170017"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_005","doi-asserted-by":"crossref","unstructured":"Nie, M, Yu, B, Chen, R, Sun, B, Mao, J, Wang, X, et al.. Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients. Clin Endocrinol 2021;95:153\u201362. https:\/\/doi.org\/10.1111\/cen.14436.","DOI":"10.1111\/cen.14436"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_006","doi-asserted-by":"crossref","unstructured":"Villanueva, C, Jacobson-Dickman, E, Xu, C, Manouvrier, S, Dwyer, AA, Sykiotis, GP, et al.. Congenital hypogonadotropic hypogonadism with split hand\/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. Genet Med 2015;17:651\u20139. https:\/\/doi.org\/10.1038\/gim.2014.166.","DOI":"10.1038\/gim.2014.166"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_007","doi-asserted-by":"crossref","unstructured":"Jarzabek, K, Wolczynski, S, Lesniewicz, R, Plessis, G, Kottler, ML. Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome. Adv Med Sci 2012;57:314\u201321. https:\/\/doi.org\/10.2478\/v10039-012-0036-4.","DOI":"10.2478\/v10039-012-0036-4"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_008","doi-asserted-by":"crossref","unstructured":"Zenaty, D, Bretones, P, Lambe, C, Guemas, I, David, M, L\u00e9ger, J, et al.. Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). Mol Cell Endocrinol 2006;254-255:78\u201383. https:\/\/doi.org\/10.1016\/j.mce.2006.04.006.","DOI":"10.1016\/j.mce.2006.04.006"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_009","doi-asserted-by":"crossref","unstructured":"Costa-Barbosa, FA, Balasubramanian, R, Keefe, KW, Shaw, ND, Al-Tassan, N, Plummer, L, et al.. Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab 2013;98:E943\u201353. https:\/\/doi.org\/10.1210\/jc.2012-4116.","DOI":"10.1210\/jc.2012-4116"},{"key":"2023040100332864134_j_jpem-2021-0730_ref_010","doi-asserted-by":"crossref","unstructured":"Ohtaka, K, Fujisawa, Y, Takada, F, Hasegawa, Y, Miyoshi, T, Hasegawa, T, et al.. FGFR1 analyses in four patients with hypogonadotropic hypogonadism with split-hand\/foot malformation: implications for the promoter region. Hum Mutat 2017;38:503\u20136. https:\/\/doi.org\/10.1002\/humu.23178.","DOI":"10.1002\/humu.23178"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0730\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0730\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T15:48:18Z","timestamp":1680364098000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0730\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,8]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,8,9]]},"published-print":{"date-parts":[[2022,10,26]]}},"alternative-id":["10.1515\/jpem-2021-0730"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0730","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,8]]}}}