Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the ABCA1 gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I). TD typically leads to accumulation of cholesterol in the peripheral...

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Detalles Bibliográficos
Autores: Barbosa Gouveia, Bárbara, Fernández Crespo, Silvia, Lazaré Iglesias, Héctor, González Quintela, Arturo, Vázquez Agra, Néstor, Hermida Ameijeiras, Álvaro
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universidad de Santiago de Compostela (USC)
Repositorio:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
Idioma:inglés
OAI Identifier:oai:minerva.usc.gal:10347/38887
Acceso en línea:https://hdl.handle.net/10347/38887
Access Level:acceso abierto
Palabra clave:ABCA1
Tangier disease
High-density lipoprotein
ApoA-I
Bioinformatics
32 Ciencias médicas
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spelling Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier DiseaseBarbosa Gouveia, BárbaraFernández Crespo, SilviaLazaré Iglesias, HéctorGonzález Quintela, ArturoVázquez Agra, NéstorHermida Ameijeiras, ÁlvaroABCA1Tangier diseaseHigh-density lipoproteinApoA-IBioinformatics32 Ciencias médicasTangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the ABCA1 gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I). TD typically leads to accumulation of cholesterol in the peripheral tissues and early coronary disease but with highly variable clinical expression. Herein, we describe a case study of a 59-year-old male patient with features typical of TD, in whom a likely pathogenic variant in the ABCA1 gene was identified by whole-exome sequencing (WES), identified for the first time as homozygous (NM_005502.4: c.4799A>G (p. His1600Arg)). In silico analysis including MutationTaster and DANN score were used to predict the pathogenicity of the variant and a protein model generated by SWISS-MODEL was built to determine how the homozygous variant detected in our patient may change the protein structure and impact on its function. This case study describes a homozygous variant of the ABCA1 gene, which is responsible for a severe form of TD and underlines the importance of using bioinformatics and genomics for linking genotype to phenotype and better understanding and accounting for the functional impact of genetic variationsMDPIUniversidade de Santiago de Compostela. Departamento de Psiquiatría, Radioloxía, Saúde Pública, Enfermaría e Medicina20232023-03-3020232023-03-30journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10347/38887reponame:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostelainstname:Universidad de Santiago de Compostela (USC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/)http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:minerva.usc.gal:10347/388872026-06-15T12:47:27Z
dc.title.none.fl_str_mv Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
title Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
spellingShingle Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Barbosa Gouveia, Bárbara
ABCA1
Tangier disease
High-density lipoprotein
ApoA-I
Bioinformatics
32 Ciencias médicas
title_short Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
title_full Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
title_fullStr Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
title_full_unstemmed Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
title_sort Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
dc.creator.none.fl_str_mv Barbosa Gouveia, Bárbara
Fernández Crespo, Silvia
Lazaré Iglesias, Héctor
González Quintela, Arturo
Vázquez Agra, Néstor
Hermida Ameijeiras, Álvaro
author Barbosa Gouveia, Bárbara
author_facet Barbosa Gouveia, Bárbara
Fernández Crespo, Silvia
Lazaré Iglesias, Héctor
González Quintela, Arturo
Vázquez Agra, Néstor
Hermida Ameijeiras, Álvaro
author_role author
author2 Fernández Crespo, Silvia
Lazaré Iglesias, Héctor
González Quintela, Arturo
Vázquez Agra, Néstor
Hermida Ameijeiras, Álvaro
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade de Santiago de Compostela. Departamento de Psiquiatría, Radioloxía, Saúde Pública, Enfermaría e Medicina
dc.subject.none.fl_str_mv ABCA1
Tangier disease
High-density lipoprotein
ApoA-I
Bioinformatics
32 Ciencias médicas
topic ABCA1
Tangier disease
High-density lipoprotein
ApoA-I
Bioinformatics
32 Ciencias médicas
description Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the ABCA1 gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I). TD typically leads to accumulation of cholesterol in the peripheral tissues and early coronary disease but with highly variable clinical expression. Herein, we describe a case study of a 59-year-old male patient with features typical of TD, in whom a likely pathogenic variant in the ABCA1 gene was identified by whole-exome sequencing (WES), identified for the first time as homozygous (NM_005502.4: c.4799A>G (p. His1600Arg)). In silico analysis including MutationTaster and DANN score were used to predict the pathogenicity of the variant and a protein model generated by SWISS-MODEL was built to determine how the homozygous variant detected in our patient may change the protein structure and impact on its function. This case study describes a homozygous variant of the ABCA1 gene, which is responsible for a severe form of TD and underlines the importance of using bioinformatics and genomics for linking genotype to phenotype and better understanding and accounting for the functional impact of genetic variations
publishDate 2023
dc.date.none.fl_str_mv 2023
2023-03-30
2023
2023-03-30
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
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 https://hdl.handle.net/10347/38887
url https://hdl.handle.net/10347/38887
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
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
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 MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname:Universidad de Santiago de Compostela (USC)
instname_str Universidad de Santiago de Compostela (USC)
reponame_str Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
collection Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
repository.name.fl_str_mv
repository.mail.fl_str_mv
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