E-resources
Peer reviewed
-
Tenorio‐Castaño, Jair Antonio; Arias, Pedro; Fernández‐Jaén, Alberto; Lay‐Son, Guillermo; Bueno‐Lozano, Gloria; Bayat, Allan; Faivre, Laurence; Gallego, Natalia; Ramos, Sergio; Butler, Kameryn M.; Morel, Chantal; Hadjiyannakis, Stasia; Lespinasse, James; Tran‐Mau‐Them, Frederic; Santos‐Simarro, Fernando; Pinson, Lucile; Martínez‐Monseny, Antonio Federico; O'Callaghan Cord, María del Mar; Álvarez, Sara; Stolerman, Elliot S.; Washington, Camerun; Ramos, Feliciano J.; The S. O. G. R. I. Consortium; Lapunzina, Pablo
Clinical genetics, October 2021, 2021-10-00, 20211001, Volume: 100, Issue: 4Journal Article
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.
Author
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.