Tenorio syndrome: description of 9 new cases and review of the clinical and molecular features

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dc.catalogadoraba
dc.contributor.authorGuillermo Lay-Son
dc.date.accessioned2024-03-04T15:19:43Z
dc.date.available2024-03-04T15:19:43Z
dc.date.issued2022
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://www.nature.com/articles/s41431-021-01026-1
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/82477
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.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleTenorio syndrome: description of 9 new cases and review of the clinical and molecular features
dc.typeartículo
dc.volumen100
sipa.codpersvinculados1081531
sipa.trazabilidadORCID;2024-01-15
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