An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants

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dc.authoridYilmaz Gulec, Elif/0000-0003-0872-3898
dc.authoridTeralı, Kerem/0000-0002-9964-6383
dc.authoridYilmaz Gulec, Elif/0000-0003-0872-3898
dc.authoridGezdirici, Alper/0000-0002-2432-9279
dc.authorwosidYilmaz Gulec, Elif/X-2778-2018
dc.authorwosidTeralı, Kerem/Q-3270-2016
dc.authorwosidYilmaz Gulec, Elif/GPS-8141-2022
dc.authorwosidbornaun, helen/HNI-1932-2023
dc.authorwosidEroz, Recep/HFZ-9751-2022
dc.authorwosiddogan, mustafa/GQQ-1241-2022
dc.authorwosidGezdirici, Alper/W-8459-2018
dc.contributor.authorGezdirici, Alper
dc.contributor.authorTerali, Kerem
dc.contributor.authorGulec, Elif Yilmaz
dc.contributor.authorBornaun, Helen
dc.contributor.authorDogan, Mustafa
dc.contributor.authorEroz, Recep
dc.date.accessioned2024-08-04T20:56:27Z
dc.date.available2024-08-04T20:56:27Z
dc.date.issued2021
dc.departmentİnönü Üniversitesien_US
dc.description.abstractMarfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis of MFS relies on the revised Ghent criteria, outlined by international expert opinion to facilitate accurate recognition of this syndrome as well as to improve patient management and counseling. However, it may not always be possible to make a definitive diagnosis according to these criteria in each patient and thus molecular confirmation is necessary in subjects with suspected MFS. This debilitating, if not fatal, disorder is caused by mutations in FBN1, which encodes a major constitutive element of extracellular microfibrils. Here, we present a detailed clinical and molecular analysis of 76 Turkish patients with definitive or suspected MFS diagnosed at our center between 2014 and 2019. We were able to identify a total of 51 different FBN1 variants in our cohort, 31 of which have previously been reported in the relevant scientific literature. The remaining 20 variants have not been documented to date. In one patient, we detected a large deletion including the entire FBN1 gene using the array CGH approach. Currently, there are very few studies on the genotype-phenotype correlation of patients with MFS, and no clear genotype-phenotype maps for MFS have been constructed so far, except for some cases. We believe that our findings will make a rich and peculiar contribution to the elusive genotype-phenotype relationship in MFS, especially in this large and populous ethnic group.en_US
dc.identifier.doi10.1038/s10038-021-00899-w
dc.identifier.endpage657en_US
dc.identifier.issn1434-5161
dc.identifier.issn1435-232X
dc.identifier.issue7en_US
dc.identifier.pmid33483584en_US
dc.identifier.startpage647en_US
dc.identifier.urihttps://doi.org/10.1038/s10038-021-00899-w
dc.identifier.urihttps://hdl.handle.net/11616/102324
dc.identifier.volume66en_US
dc.identifier.wosWOS:000610028100001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringernatureen_US
dc.relation.ispartofJournal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMutation Databaseen_US
dc.subjectHuman Geneen_US
dc.subjectFibrillin-1en_US
dc.subjectProfibrillinen_US
dc.subjectDisordersen_US
dc.subjectPhenotypeen_US
dc.subjectDiagnosisen_US
dc.subjectInsightsen_US
dc.subjectDeletionen_US
dc.subjectProteinen_US
dc.titleAn integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variantsen_US
dc.typeArticleen_US

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