A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype

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dc.contributor.authorCallea M.
dc.contributor.authorWilloughby C.E.
dc.contributor.authorCamarata-Scalisi F.
dc.contributor.authorGiovannoni I.
dc.contributor.authorVinciguerra A.
dc.contributor.authorYavuz I.
dc.contributor.authorDi Stazio M.
dc.date.accessioned2024-04-24T18:43:48Z
dc.date.available2024-04-24T18:43:48Z
dc.date.issued2017
dc.departmentDicle Üniversitesien_US
dc.description.abstractMarfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastating consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity. © 2017, Instituto de Investigaciones Clinicas. All rights reserved.en_US
dc.identifier.endpage78en_US
dc.identifier.issn0535-5133
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85015826410en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage70en_US
dc.identifier.urihttps://hdl.handle.net/11468/24392
dc.identifier.volume58en_US
dc.indekslendigikaynakScopus
dc.language.isoenen_US
dc.publisherInstituto de Investigaciones Clinicasen_US
dc.relation.ispartofInvestigacion Clinica (Venezuela)en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectC.3037g>Aen_US
dc.subjectFbn1en_US
dc.subjectMarfan Syndromeen_US
dc.subjectPhenotypeen_US
dc.titleA c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotypeen_US
dc.title.alternativeMutación c.3037G>A en el gen FBN1 causa sindrome de Marfan con fenotipo atípico severoen_US
dc.typeArticleen_US

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