Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Background Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intrage...

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Autores: Aguilera, Cinthia, Esteve Garcia, Anna, Casasnovas, Carlos, Vélez Santamaría, Valentina, Rausell, Laura, Gargallo, Pablo, Garcia Planells, Javier, Alia Ramos, Pedro, Llecha, Núria, Padró Miquel, Ariadna
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/205181
Acceso en línea:https://hdl.handle.net/2445/205181
Access Level:acceso abierto
Palabra clave:Biomecànica
Fenotip
Biomechanics
Phenotype
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spelling Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?Aguilera, CinthiaEsteve Garcia, AnnaCasasnovas, CarlosVélez Santamaría, ValentinaRausell, LauraGargallo, PabloGarcia Planells, JavierAlia Ramos, PedroLlecha, NúriaPadró Miquel, AriadnaBiomecànicaFenotipBiomechanicsPhenotypeBackground Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intragenic deletion or whole-gene deletion of FXN on one allele and a full-penetrance expanded GAA repeat on the other allele.Case presentation We report here a patient that presented the typical clinical features of FRDA and genetic analysis of FXN intron 1 led to the assumption that the patient carried the common biallelic expansion. Subsequently, parental sample testing led to the identification of a novel intragenic deletion involving the 5'UTR upstream region and exons 1 and 2 of the FXN gene by MLPA.Conclusions With this case, we want to raise awareness about the potentially higher prevalence of intragenic deletions and underline the essential role of parental sample testing in providing accurate genetic counselling.Springer Science and Business Media LLC2024202420232024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion6 p.application/pdfhttps://hdl.handle.net/2445/205181Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1186/s12920-023-01743-0BMC Medical Genomics, 2023, vol. 16, num. 1https://doi.org/10.1186/s12920-023-01743-0cc by (c) Aguilera, Cinthia et al, 2023http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2051812026-05-29T05:05:01Z
dc.title.none.fl_str_mv Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
title Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
spellingShingle Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
Aguilera, Cinthia
Biomecànica
Fenotip
Biomechanics
Phenotype
title_short Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
title_full Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
title_fullStr Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
title_full_unstemmed Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
title_sort Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
dc.creator.none.fl_str_mv Aguilera, Cinthia
Esteve Garcia, Anna
Casasnovas, Carlos
Vélez Santamaría, Valentina
Rausell, Laura
Gargallo, Pablo
Garcia Planells, Javier
Alia Ramos, Pedro
Llecha, Núria
Padró Miquel, Ariadna
author Aguilera, Cinthia
author_facet Aguilera, Cinthia
Esteve Garcia, Anna
Casasnovas, Carlos
Vélez Santamaría, Valentina
Rausell, Laura
Gargallo, Pablo
Garcia Planells, Javier
Alia Ramos, Pedro
Llecha, Núria
Padró Miquel, Ariadna
author_role author
author2 Esteve Garcia, Anna
Casasnovas, Carlos
Vélez Santamaría, Valentina
Rausell, Laura
Gargallo, Pablo
Garcia Planells, Javier
Alia Ramos, Pedro
Llecha, Núria
Padró Miquel, Ariadna
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Biomecànica
Fenotip
Biomechanics
Phenotype
topic Biomecànica
Fenotip
Biomechanics
Phenotype
description Background Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intragenic deletion or whole-gene deletion of FXN on one allele and a full-penetrance expanded GAA repeat on the other allele.Case presentation We report here a patient that presented the typical clinical features of FRDA and genetic analysis of FXN intron 1 led to the assumption that the patient carried the common biallelic expansion. Subsequently, parental sample testing led to the identification of a novel intragenic deletion involving the 5'UTR upstream region and exons 1 and 2 of the FXN gene by MLPA.Conclusions With this case, we want to raise awareness about the potentially higher prevalence of intragenic deletions and underline the essential role of parental sample testing in providing accurate genetic counselling.
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/205181
url https://hdl.handle.net/2445/205181
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1186/s12920-023-01743-0
BMC Medical Genomics, 2023, vol. 16, num. 1
https://doi.org/10.1186/s12920-023-01743-0
dc.rights.none.fl_str_mv cc by (c) Aguilera, Cinthia et al, 2023
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Aguilera, Cinthia et al, 2023
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 6 p.
application/pdf
dc.publisher.none.fl_str_mv Springer Science and Business Media LLC
publisher.none.fl_str_mv Springer Science and Business Media LLC
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869411575429857280
score 15,812429

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