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Hvidovre Hospital - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftReviewpeer review

DOI

  1. Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  • Jair Tenorio-Castaño
  • Pedro Arias
  • Alberto Fernández-Jaén
  • Guillermo Lay-Son
  • Gloria Bueno-Lozano
  • Allan Bayat
  • Laurence Faivre
  • Natalia Gallego
  • Sergio Ramos
  • Kameryn M Butler
  • Chantal Morel
  • Stasia Hadjiyannakis
  • James Lespinasse
  • Frederic Tran-Mau-Them
  • Fernando Santos-Simarro
  • Lucile Pinson
  • Antonio Federico Martínez-Monseny
  • María Del Mar O'Callaghan Cord
  • Sara Álvarez
  • Elliot S Stolerman
  • Camerun Washington
  • Feliciano J Ramos
  • The Sogri Consortium
  • Pablo Lapunzina
Vis graf over relationer

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 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.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind100
Udgave nummer4
Sider (fra-til)405-411
Antal sider7
ISSN0009-9163
DOI
StatusUdgivet - okt. 2021

ID: 66570782