Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case

Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-oldboy presenting with psychomotor regression, spasticity, and dystonic postures.Methods and Results: Trio-based whole exome sequencing revealed two previously unreported loss-...

Full description

Bibliographic Details
Authors: Jiménez de la Peña, María del Mar, López Martín, Sara, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado‑Requero, Pilar, Calleja-Pérez, Beatriz, Alvarez, Sara, Albert Bitaubé, Jacobo, Fernández-Jaén, Alberto
Format: article
Publication Date:2025
Country:España
Institution:Universidad Autónoma de Madrid
Repository:Biblos-e Archivo. Repositorio Institucional de la UAM
Language:English
OAI Identifier:oai:repositorio.uam.es:10486/717816
Online Access:http://hdl.handle.net/10486/717816
https://dx.doi.org/10.1002/mgg3.70070
Access Level:Open access
Keyword:Cortical Thickness
FUCA1 Gene
Fucosidosis
Neuroimaging
Psicología
id ES_4bb61cdac88db83cd4f04eb06ac404d9
oai_identifier_str oai:repositorio.uam.es:10486/717816
network_acronym_str ES
network_name_str España
repository_id_str
spelling Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis caseJiménez de la Peña, María del MarLópez Martín, SaraMartín Fernández-Mayoralas, DanielFernández-Perrone, Ana LauraJiménez de Domingo, AnaTirado‑Requero, PilarCalleja-Pérez, BeatrizAlvarez, SaraAlbert Bitaubé, JacoboFernández-Jaén, AlbertoCortical ThicknessFUCA1 GeneFucosidosisNeuroimagingPsicologíaBackground: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-oldboy presenting with psychomotor regression, spasticity, and dystonic postures.Methods and Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in theFUCA1 gene. Brain magnetic resonance imaging (MRI) findings included corpus callosum hypoplasia, white matter hypomyeli-nation, and alterations in the globus pallidi, alongside markedly reduced cortical thickness.Conclusions: These findings suggest that cortical atrophy may occur in the early stages of fucosidosis. Early diagnosis is im-perative for genetic counseling, timely investigations, and initiating early therapeutic interventions to potentially mitigate moreextensive brain involvementThis work was supported by the Spanish Ministerio de Ciencia e Innovación (MCI), Agencia Estatal de Investigación (AEI) and EuropeanRegional Development Fund (Grant PID2022-141420NB-I00)WileyDepartamento de Psicología Biológica y de la SaludFacultad de Psicología20252025-01-25research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10486/717816https://dx.doi.org/10.1002/mgg3.70070reponame:Biblos-e Archivo. Repositorio Institucional de la UAMinstname:Universidad Autónoma de MadridInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositorio.uam.es:10486/7178162026-06-23T12:46:27Z
dc.title.none.fl_str_mv Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
title Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
spellingShingle Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
Jiménez de la Peña, María del Mar
Cortical Thickness
FUCA1 Gene
Fucosidosis
Neuroimaging
Psicología
title_short Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
title_full Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
title_fullStr Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
title_full_unstemmed Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
title_sort Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
dc.creator.none.fl_str_mv Jiménez de la Peña, María del Mar
López Martín, Sara
Martín Fernández-Mayoralas, Daniel
Fernández-Perrone, Ana Laura
Jiménez de Domingo, Ana
Tirado‑Requero, Pilar
Calleja-Pérez, Beatriz
Alvarez, Sara
Albert Bitaubé, Jacobo
Fernández-Jaén, Alberto
author Jiménez de la Peña, María del Mar
author_facet Jiménez de la Peña, María del Mar
López Martín, Sara
Martín Fernández-Mayoralas, Daniel
Fernández-Perrone, Ana Laura
Jiménez de Domingo, Ana
Tirado‑Requero, Pilar
Calleja-Pérez, Beatriz
Alvarez, Sara
Albert Bitaubé, Jacobo
Fernández-Jaén, Alberto
author_role author
author2 López Martín, Sara
Martín Fernández-Mayoralas, Daniel
Fernández-Perrone, Ana Laura
Jiménez de Domingo, Ana
Tirado‑Requero, Pilar
Calleja-Pérez, Beatriz
Alvarez, Sara
Albert Bitaubé, Jacobo
Fernández-Jaén, Alberto
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Departamento de Psicología Biológica y de la Salud
Facultad de Psicología
dc.subject.none.fl_str_mv Cortical Thickness
FUCA1 Gene
Fucosidosis
Neuroimaging
Psicología
topic Cortical Thickness
FUCA1 Gene
Fucosidosis
Neuroimaging
Psicología
description Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-oldboy presenting with psychomotor regression, spasticity, and dystonic postures.Methods and Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in theFUCA1 gene. Brain magnetic resonance imaging (MRI) findings included corpus callosum hypoplasia, white matter hypomyeli-nation, and alterations in the globus pallidi, alongside markedly reduced cortical thickness.Conclusions: These findings suggest that cortical atrophy may occur in the early stages of fucosidosis. Early diagnosis is im-perative for genetic counseling, timely investigations, and initiating early therapeutic interventions to potentially mitigate moreextensive brain involvement
publishDate 2025
dc.date.none.fl_str_mv 2025
2025-01-25
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/10486/717816
https://dx.doi.org/10.1002/mgg3.70070
url http://hdl.handle.net/10486/717816
https://dx.doi.org/10.1002/mgg3.70070
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 4.0 International
http://creativecommons.org/licenses/by/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 4.0 International
http://creativecommons.org/licenses/by/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_ 1869407580274556928
score 15.81155

Similar Items