{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:07Z","timestamp":1772160067253,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Tenorio syndrome (TNORS) (OMIM #616260) is a relatively recent disorder with very few cases described so far. Clinical features included macrocephaly, intellectual disability, hypotonia, enlarged ventricles and autoimmune diseases. Molecular underlying mechanism demonstrated missense variants and a large deletion encompassing\n                    <jats:italic>RNF125<\/jats:italic>\n                    , a gene that encodes for an U3 ubiquitin ligase protein. Since the initial description of the disorder in six patients from four families, several new patients were diagnosed, adding more evidence to the clinical spectrum. In this article, we described 14 additional cases with deep phenotyping and make an overall review of all the cases with pathogenic variants in\n                    <jats:italic>RNF125<\/jats:italic>\n                    . Not all patients presented with overgrowth, but instead, most patients showed a common pattern of neurodevelopmental disease, macrocephaly and\/or large forehead. Segregation analysis showed that, though the variant was inherited in some patients from an apparently asymptomatic parent, deep phenotyping suggested a mild form of the disease in some of them. The mechanism underlying the development of this disease is not well understood yet and the report of further cases will help to a better understanding and clinical characterization of the syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14020","type":"journal-article","created":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T18:31:53Z","timestamp":1625164313000},"page":"405-411","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features"],"prefix":"10.1111","volume":"100","author":[{"given":"Jair Antonio","family":"Tenorio\u2010Casta\u00f1o","sequence":"first","affiliation":[{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"Overgrowth Syndromes Laboratory INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM)  Madrid Spain"},{"name":"Ithaca European Reference Network  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Arias","sequence":"additional","affiliation":[{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"Overgrowth Syndromes Laboratory INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Fern\u00e1ndez\u2010Ja\u00e9n","sequence":"additional","affiliation":[{"name":"Hospital Universitario Quir\u00f3nsalud Madrid Universidad Europea de Madrid  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Lay\u2010Son","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica, Divisi\u00f3n de Pediatr\u00eda, Facultad de Medicina Pontificia Universidad Cat\u00f3lica de  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria","family":"Bueno\u2010Lozano","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics, Service of Paediatrics, School of Medicine University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER\u2010GCV02 and ISS\u2010Arag\u00f3n  Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hvidovre Hospital University of Copenhagen  Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Ithaca European Reference Network  Brussels Belgium"},{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs FHU TRANSLAD, H\u00f4pital d'Enfants, CHU Dijon  Dijon France"},{"name":"UMR1231 GAD Inserm \u2010 Universit\u00e9 Bourgogne\u2010Franche Comt\u00e9  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Gallego","sequence":"additional","affiliation":[{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"Overgrowth Syndromes Laboratory INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM)  Madrid Spain"},{"name":"Ithaca European Reference Network  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Ramos","sequence":"additional","affiliation":[{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"Overgrowth Syndromes Laboratory INGEMM, Instituto de Gen\u00e9tica M\u00e9dica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Aut\u00f3noma de Madrid (UAM)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kameryn M.","family":"Butler","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Morel","sequence":"additional","affiliation":[{"name":"University Health Network Fred A. 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