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

Jiménez de la Peña, María del Mar; Rincón-Pérez, Irene; López Martín, Sara; Albert Bitaubé, Jacobo; Martín Fernández-Mayoralas, Daniel; Fernández-Perrone, Ana Laura; Jiménez de Domingo, Ana; Tirado, Pilar; Calleja-Pérez, Beatriz; Porta, Javier; Alvarez, Sara; Fernández-Jaén, Alberto

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, María del Mar, Rincón-Pérez, Irene, López Martín, Sara, Albert Bitaubé, Jacobo, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja-Pérez, Beatriz, Porta, Javier, Alvarez, Sara, Fernández-Jaén, Alberto
Tipo de recurso:	artículo
Fecha de publicación:	2023
País:	España
Institución:	Universidad Autónoma de Madrid
Repositorio:	Biblos-e Archivo. Repositorio Institucional de la UAM
Idioma:	inglés
OAI Identifier:	oai:repositorio.uam.es:10486/720125
Acceso en línea:	http://hdl.handle.net/10486/720125 https://dx.doi.org/10.1002/ajmg.a.63434
Access Level:	acceso abierto
Palabra clave:	cortical thickness intellectual disability neuroimaging Tatton-Brown–Rahman syndrome tractography DNMT3A Psicología

id	ES_5486a97ed29e8a9fe98c970fa7cd20cf
oai_identifier_str	oai:repositorio.uam.es:10486/720125
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, María del MarRincón-Pérez, IreneLópez Martín, SaraAlbert Bitaubé, JacoboMartín Fernández-Mayoralas, DanielFernández-Perrone, Ana LauraJiménez de Domingo, AnaTirado, PilarCalleja-Pérez, BeatrizPorta, JavierAlvarez, SaraFernández-Jaén, Albertocortical thicknessintellectual disabilityneuroimagingTatton-Brown–Rahman syndrometractographyDNMT3APsicologíaTatton-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 variantsAgencia Estatal de Investigacion; European Regional Development Fund; European UnionNextGenerationEU, Grant/Award Number: UCM CT31/21; Ministerio de Ciencia e Innovacion; Ministerio de Universidades; FEDER-UE, Grant/Award Number:PID2022-141420NB-I00WileyDepartamento de Psicología BásicaDepartamento de Psicología Biológica y de la SaludFacultad de PsicologíaNeurociencia Cognitiva: Atención Y MemoriaCerebro, Afecto Y Cognición20232023-10-05research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10486/720125https://dx.doi.org/10.1002/ajmg.a.63434reponame:Biblos-e Archivo. Repositorio Institucional de la UAMinstname:Universidad Autónoma de MadridInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:repositorio.uam.es:10486/7201252026-06-23T12:46:27Z
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, María del Mar cortical thickness intellectual disability neuroimaging Tatton-Brown–Rahman syndrome tractography DNMT3A Psicología
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, María del Mar Rincón-Pérez, Irene López Martín, Sara Albert Bitaubé, Jacobo Martín Fernández-Mayoralas, Daniel Fernández-Perrone, Ana Laura Jiménez de Domingo, Ana Tirado, Pilar Calleja-Pérez, Beatriz Porta, Javier Alvarez, Sara Fernández-Jaén, Alberto
author	Jiménez de la Peña, María del Mar
author_facet	Jiménez de la Peña, María del Mar Rincón-Pérez, Irene López Martín, Sara Albert Bitaubé, Jacobo Martín Fernández-Mayoralas, Daniel Fernández-Perrone, Ana Laura Jiménez de Domingo, Ana Tirado, Pilar Calleja-Pérez, Beatriz Porta, Javier Alvarez, Sara Fernández-Jaén, Alberto
author_role	author
author2	Rincón-Pérez, Irene López Martín, Sara Albert Bitaubé, Jacobo Martín Fernández-Mayoralas, Daniel Fernández-Perrone, Ana Laura Jiménez de Domingo, Ana Tirado, Pilar Calleja-Pérez, Beatriz Porta, Javier Alvarez, Sara Fernández-Jaén, Alberto
author2_role	author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Departamento de Psicología Básica Departamento de Psicología Biológica y de la Salud Facultad de Psicología Neurociencia Cognitiva: Atención Y Memoria Cerebro, Afecto Y Cognición
dc.subject.none.fl_str_mv	cortical thickness intellectual disability neuroimaging Tatton-Brown–Rahman syndrome tractography DNMT3A Psicología
topic	cortical thickness intellectual disability neuroimaging Tatton-Brown–Rahman syndrome tractography DNMT3A Psicología
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 2023-10-05
dc.type.none.fl_str_mv	research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	http://hdl.handle.net/10486/720125 https://dx.doi.org/10.1002/ajmg.a.63434
url	http://hdl.handle.net/10486/720125 https://dx.doi.org/10.1002/ajmg.a.63434
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 Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/
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 Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	Wiley
publisher.none.fl_str_mv	Wiley
dc.source.none.fl_str_mv	reponame:Biblos-e Archivo. Repositorio Institucional de la UAM instname:Universidad Autónoma de Madrid
instname_str	Universidad Autónoma de Madrid
reponame_str	Biblos-e Archivo. Repositorio Institucional de la UAM
collection	Biblos-e Archivo. Repositorio Institucional de la UAM
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_	1869408190009966592
score	15,81155

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

Similares en LA Referencia