Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

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dc.article.number14020
dc.catalogadoraba
dc.contributor.authorTenorio Castaño, Jair Antonio
dc.contributor.authorArias, Pedro
dc.contributor.authorFernández Jaén, Alberto
dc.contributor.authorLay-Son, Guillermo
dc.contributor.authorBueno Lozano, Gloria
dc.contributor.authorBayat, Allan
dc.contributor.authorFaivre, Laurence
dc.contributor.authorGallego, Natalia
dc.contributor.authorRamos, Sergio
dc.contributor.authorButler, Kameryn M.
dc.contributor.authorMorel, Chantal
dc.contributor.authorHadjiyannakis, Stasia
dc.contributor.authorLespinasse, James
dc.contributor.authorTran-Mau-Them, Frederic
dc.contributor.authorSantos Simarro, Fernando
dc.contributor.authorPinson, Lucile
dc.contributor.authorMartínez Monseny, Antonio Federico
dc.contributor.authorO'Callaghan Cord, María del Mar
dc.contributor.authorÁlvarez, Sara
dc.contributor.authorStolerman, Elliot S.
dc.contributor.authorWashington, Camerun
dc.contributor.authorRamos, Feliciano J.
dc.contributor.authorThe S. O. G. R. I. Consortium
dc.contributor.authorLapunzina, Pablo
dc.date.accessioned2024-03-04T15:19:39Z
dc.date.available2024-03-04T15:19:39Z
dc.date.issued2021
dc.description.abstractTenorio 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 RNF125, 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 RNF125. 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.
dc.fechaingreso.objetodigital2024-02-26
dc.format.extent7 páginas
dc.fuente.origenORCID
dc.identifier.doi10.1111/cge.14020
dc.identifier.eissn1399-0004
dc.identifier.issn0009-9163
dc.identifier.urihttps://doi.org/10.1111/cge.14020
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/82451
dc.information.autorucEscuela de Medicina; Lay-son Rodriguez, Guillermo Roberto; 0000-0001-9933-1253; 1081531
dc.issue.numero4
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final411
dc.pagina.inicio405
dc.revistaClinical Genetics
dc.rightsacceso restringido
dc.subjectGenomic medicine
dc.subjectMacrocephaly
dc.subjectNeurodevelopmental
dc.subjectOvergrowth
dc.subjectRing-finger
dc.subjectRNF125
dc.subjectTenorio syndrome
dc.subjectUbiquitin ligase
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleTenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
dc.typeartículo
dc.volumen100
sipa.codpersvinculados1081531
sipa.trazabilidadORCID;2024-01-15
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