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p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry disease

2019-12Journal article Restricted access
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dc.contributor.authorCarvalho Silva, Daniela
dc.contributor.authorMarques, Nuno
dc.contributor.authorAzevedo, Olga
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorBento, Dina
dc.contributor.authorGuedes, Joao
dc.contributor.authorAzevedo, Pedro
dc.contributor.authorBispo, Joao
dc.contributor.authorMota, Teresa
dc.contributor.authorFernandes, Raquel
dc.contributor.authorNzwalo, HipĂłlito
dc.contributor.authorCabrita, Ana
dc.contributor.authorRamos, André
dc.contributor.authorde Jesus, Ilidio
dc.date.accessioned2020-07-24T10:50:48Z
dc.date.available2020-07-24T10:50:48Z
dc.date.issued2019-12
dc.description.abstractThe authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.
dc.description.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doi10.1159/000502437
dc.identifier.issn0008-6312
dc.identifier.urihttp://hdl.handle.net/10400.1/14155
dc.language.isoeng
dc.peerreviewedyes
dc.publisherKarger
dc.subjectCardiovascular magnetic-resonance
dc.subjectLeft-ventricular hypertrophy
dc.subjectAlpha galactosidase
dc.subjectReplacement therapy
dc.subjectIdentification
dc.subjectVariants
dc.subjectFabry disease
dc.subjectClassic phenotype
dc.subjectMissense mutation
dc.subjectGLA gene
dc.subjectp.G360R
dc.titlep.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry disease
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage130
oaire.citation.issue03-abr
oaire.citation.startPage125
oaire.citation.titleCardiology
oaire.citation.volume144
person.familyNameCarvalho Silva
person.familyNameMarques
person.familyNameBento
person.familyNameAzevedo
person.familyNameFernandes
person.familyNameNzwalo
person.givenNameDaniela
person.givenNameNuno
person.givenNameDina
person.givenNamePedro
person.givenNameRaquel
person.givenNameHipĂłlito
person.identifier337064
person.identifier.ciencia-id2C1F-E4F3-2C79
person.identifier.orcid0000-0002-2730-6830
person.identifier.orcid0000-0003-0275-2807
person.identifier.orcid0000-0001-6383-7228
person.identifier.orcid0000-0002-1464-4785
person.identifier.orcid0000-0002-4181-9800
person.identifier.orcid0000-0002-1502-3534
person.identifier.ridAAG-3931-2020
person.identifier.scopus-author-id36057285600
rcaap.rightsrestrictedAccess
rcaap.typearticle
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relation.isAuthorOfPublication1b66ba1f-d295-4211-b41e-c0f0b622eea0
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relation.isAuthorOfPublication.latestForDiscovery287f7d4e-5ad8-4794-b526-c61d32c00446

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