A rare STAP1 mutation incompletely associated with familial hypercholesterolemia

Autosomal dominant hypercholesterolemia, being referred to as familial hypercholesterolemia (FH), is mainly due to defective LDL receptor (LDLR) function, but is also associated with variants in genes encoding APOB (LDLR ligand) and PCSK9, the catabolic regulator of LDLR. The signal-transducing adap...

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Autores: Blanco Vaca, Francisco|||0000-0001-7380-5385, Martín-Campos, Jesús María|||0000-0003-0414-037X, Pérez, Antonio|||0000-0001-5528-1143, Fuentes-Prior, Pablo|||0000-0002-6618-3204
Tipo de recurso: artículo
Fecha de publicación:2018
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:270415
Acceso en línea:https://ddd.uab.cat/record/270415
https://dx.doi.org/urn:doi:10.1016/j.cca.2018.10.014
Access Level:acceso abierto
Palabra clave:APOB
Autosomal dominant hypercholesterolemia
LDLR
Molecular diagnosis
Phenotype-genotype correlation
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spelling A rare STAP1 mutation incompletely associated with familial hypercholesterolemiaBlanco Vaca, Francisco|||0000-0001-7380-5385Martín-Campos, Jesús María|||0000-0003-0414-037XPérez, Antonio|||0000-0001-5528-1143Fuentes-Prior, Pablo|||0000-0002-6618-3204APOBAutosomal dominant hypercholesterolemiaLDLRMolecular diagnosisPhenotype-genotype correlationAutosomal dominant hypercholesterolemia, being referred to as familial hypercholesterolemia (FH), is mainly due to defective LDL receptor (LDLR) function, but is also associated with variants in genes encoding APOB (LDLR ligand) and PCSK9, the catabolic regulator of LDLR. The signal-transducing adaptor family member 1 (STAP1) gene has been recently linked to FH. We describe the case of a 56-year-old male patient found to have hypercholesterolemia at age 34, but who did not continue follow-up nor received treatment with lipid-lowering drugs. At age 55 he suffered a myocardial infarction. A systematic NGS analysis did not show point mutations in the LDLR, APOB, LDLRAP1, or PCSK9 genes, nor large rearrangements of the LDLR gene, but revealed the heterozygous missense variant rs199787258 of STAP1 (c.526C. 22018-01-0120182018-01-01Articlehttp://purl.org/coar/resource_type/c_6501AMhttp://purl.org/coar/version/c_ab4af688f83e57aainfo:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/270415https://dx.doi.org/urn:doi:10.1016/j.cca.2018.10.014reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest material està protegit per drets d'autor i/o drets afins. Podeu utilitzar aquest material en funció del que permet la legislació de drets d'autor i drets afins d'aplicació al vostre cas. Per a d'altres usos heu d'obtenir permís del(s) titular(s) de drets.https://rightsstatements.org/vocab/InC/1.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2704152026-06-06T12:50:31Z
dc.title.none.fl_str_mv A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
title A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
spellingShingle A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
Blanco Vaca, Francisco|||0000-0001-7380-5385
APOB
Autosomal dominant hypercholesterolemia
LDLR
Molecular diagnosis
Phenotype-genotype correlation
title_short A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
title_full A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
title_fullStr A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
title_full_unstemmed A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
title_sort A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
dc.creator.none.fl_str_mv Blanco Vaca, Francisco|||0000-0001-7380-5385
Martín-Campos, Jesús María|||0000-0003-0414-037X
Pérez, Antonio|||0000-0001-5528-1143
Fuentes-Prior, Pablo|||0000-0002-6618-3204
author Blanco Vaca, Francisco|||0000-0001-7380-5385
author_facet Blanco Vaca, Francisco|||0000-0001-7380-5385
Martín-Campos, Jesús María|||0000-0003-0414-037X
Pérez, Antonio|||0000-0001-5528-1143
Fuentes-Prior, Pablo|||0000-0002-6618-3204
author_role author
author2 Martín-Campos, Jesús María|||0000-0003-0414-037X
Pérez, Antonio|||0000-0001-5528-1143
Fuentes-Prior, Pablo|||0000-0002-6618-3204
author2_role author
author
author
dc.subject.none.fl_str_mv APOB
Autosomal dominant hypercholesterolemia
LDLR
Molecular diagnosis
Phenotype-genotype correlation
topic APOB
Autosomal dominant hypercholesterolemia
LDLR
Molecular diagnosis
Phenotype-genotype correlation
description Autosomal dominant hypercholesterolemia, being referred to as familial hypercholesterolemia (FH), is mainly due to defective LDL receptor (LDLR) function, but is also associated with variants in genes encoding APOB (LDLR ligand) and PCSK9, the catabolic regulator of LDLR. The signal-transducing adaptor family member 1 (STAP1) gene has been recently linked to FH. We describe the case of a 56-year-old male patient found to have hypercholesterolemia at age 34, but who did not continue follow-up nor received treatment with lipid-lowering drugs. At age 55 he suffered a myocardial infarction. A systematic NGS analysis did not show point mutations in the LDLR, APOB, LDLRAP1, or PCSK9 genes, nor large rearrangements of the LDLR gene, but revealed the heterozygous missense variant rs199787258 of STAP1 (c.526C.
publishDate 2018
dc.date.none.fl_str_mv 2
2018-01-01
2018
2018-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
AM
http://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/270415
https://dx.doi.org/urn:doi:10.1016/j.cca.2018.10.014
url https://ddd.uab.cat/record/270415
https://dx.doi.org/urn:doi:10.1016/j.cca.2018.10.014
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
https://rightsstatements.org/vocab/InC/1.0/
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
https://rightsstatements.org/vocab/InC/1.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
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