Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

Tatton-Brown–Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de...

Descripción completa

Detalles Bibliográficos
Autores: Jiménez de la Peña, Mar, Rincón Pérez, Irene, López Martín, Sara, Albert, Jacobo, Martín Fernández Mayoralas, Daniel, Fernández Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja Pérez, Beatriz, Fernández Jaén, Alberto, Et al.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universidad Europea (UEM)
Repositorio:ABACUS. Repositorio de Producción Científica
Idioma:inglés
OAI Identifier:oai:abacus.universidadeuropea.com:11268/12714
Acceso en línea:http://hdl.handle.net/11268/12714
Access Level:acceso abierto
Palabra clave:Discapacidad intelectual
Neuroimagen
Desarrollo mental
id ES_76ffecf7b4158c455877b34eb4ab9d1a
oai_identifier_str oai:abacus.universidadeuropea.com:11268/12714
network_acronym_str ES
network_name_str España
repository_id_str
spelling Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findingsJiménez de la Peña, MarRincón Pérez, IreneLópez Martín, SaraAlbert, JacoboMartín Fernández Mayoralas, DanielFernández Perrone, Ana LauraJiménez de Domingo, AnaTirado, PilarCalleja Pérez, BeatrizFernández Jaén, AlbertoEt al.Discapacidad intelectualNeuroimagenDesarrollo mentalTatton-Brown–Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.20242024-03-0320232023-01-0120232023-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articlehttp://hdl.handle.net/11268/12714reponame:ABACUS. Repositorio de Producción Científicainstname:Universidad Europea (UEM)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:abacus.universidadeuropea.com:11268/127142026-06-11T12:41:27Z
dc.title.none.fl_str_mv Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
title Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
spellingShingle Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
Jiménez de la Peña, Mar
Discapacidad intelectual
Neuroimagen
Desarrollo mental
title_short Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
title_full Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
title_fullStr Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
title_full_unstemmed Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
title_sort Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
dc.creator.none.fl_str_mv Jiménez de la Peña, Mar
Rincón Pérez, Irene
López Martín, Sara
Albert, Jacobo
Martín Fernández Mayoralas, Daniel
Fernández Perrone, Ana Laura
Jiménez de Domingo, Ana
Tirado, Pilar
Calleja Pérez, Beatriz
Fernández Jaén, Alberto
Et al.
author Jiménez de la Peña, Mar
author_facet Jiménez de la Peña, Mar
Rincón Pérez, Irene
López Martín, Sara
Albert, Jacobo
Martín Fernández Mayoralas, Daniel
Fernández Perrone, Ana Laura
Jiménez de Domingo, Ana
Tirado, Pilar
Calleja Pérez, Beatriz
Fernández Jaén, Alberto
Et al.
author_role author
author2 Rincón Pérez, Irene
López Martín, Sara
Albert, Jacobo
Martín Fernández Mayoralas, Daniel
Fernández Perrone, Ana Laura
Jiménez de Domingo, Ana
Tirado, Pilar
Calleja Pérez, Beatriz
Fernández Jaén, Alberto
Et al.
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv Discapacidad intelectual
Neuroimagen
Desarrollo mental
topic Discapacidad intelectual
Neuroimagen
Desarrollo mental
description Tatton-Brown–Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.
publishDate 2023
dc.date.none.fl_str_mv 2023
2023-01-01
2023
2023-01-01
2024
2024-03-03
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/11268/12714
url http://hdl.handle.net/11268/12714
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:ABACUS. Repositorio de Producción Científica
instname:Universidad Europea (UEM)
instname_str Universidad Europea (UEM)
reponame_str ABACUS. Repositorio de Producción Científica
collection ABACUS. Repositorio de Producción Científica
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869411091441778688
score 15,301603

Similares en LA Referencia