Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

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dc.contributor.authorErgoren M.C.
dc.contributor.authorTurkgenc B.
dc.contributor.authorTeralı K.
dc.contributor.authorRodoplu O.
dc.contributor.authorVerstraeten A.
dc.contributor.authorVan Laer L.
dc.contributor.authorMocan G.
dc.contributor.authorLoeys B.
dc.contributor.authorTetik O.
dc.contributor.authorTemel S.G.
dc.date.accessioned2024-07-22T08:08:49Z
dc.date.available2024-07-22T08:08:49Z
dc.date.issued2019
dc.description.abstractMarfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family presenting with skeletal, ocular and cardiovascular clinical features. The 37-year-old male propositus, who had chest pain, dyspnea and shortness of breath, was first diagnosed based on the revised Ghent criteria and then subjected to molecular genetic analyses. FBN1 sequencing of the proband as well as available affected family members revealed the presence of a novel variant, c.7828G>C (p.Glu2610Gln), which was not present in any of the unaffected family members. In silico analyses demonstrated that the Glu2610 residue is part of the conserved DINE motif found at the beginning of each cbEGF domain of FBN1. The substitution of Glu2610 with Gln decreased fibrillin-1 production accordingly. Despite the fact that this variation appears to be primarily responsible for the etiology of MFS in the present family, our findings suggest that variable clinical expressions of the disease phenotype should be considered critically by the physicians. © 2018, © 2018 Informa UK Limited, trading as Taylor & Francis Group.
dc.identifier.DOI-ID10.1080/03008207.2018.1472589
dc.identifier.issn03008207
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/14550
dc.language.isoEnglish
dc.publisherTaylor and Francis Ltd
dc.rightsAll Open Access; Green Open Access
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAmino Acid Sequence
dc.subjectBase Sequence
dc.subjectChild
dc.subjectComputer Simulation
dc.subjectFamily
dc.subjectFemale
dc.subjectFibrillin-1
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectMale
dc.subjectMarfan Syndrome
dc.subjectMutation
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectfibrillin 1
dc.subjectglutamic acid
dc.subjectglutamine
dc.subjectfibrillin 1
dc.subjectadult
dc.subjectamino acid substitution
dc.subjectArticle
dc.subjectclinical article
dc.subjectclinical feature
dc.subjectdyspnea
dc.subjectexon
dc.subjectextended family
dc.subjectgene identification
dc.subjectgene sequence
dc.subjectgenetic variability
dc.subjecthuman
dc.subjectmale
dc.subjectMarfan syndrome
dc.subjectmolecular genetics
dc.subjectpedigree
dc.subjectthorax pain
dc.subjectadolescent
dc.subjectamino acid sequence
dc.subjectchemistry
dc.subjectchild
dc.subjectcomputer simulation
dc.subjectfamily
dc.subjectfemale
dc.subjectgenetics
dc.subjectheterozygote
dc.subjectMarfan syndrome
dc.subjectmutation
dc.subjectnucleotide sequence
dc.subjectpathology
dc.subjectphenotype
dc.titleIdentification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome
dc.typeArticle

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