Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Basit Öğe Kaydı
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridDeveci, Murat/0000-0001-6246-671X
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDeveci, Murat/A-6913-2015
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorDeveci, Murat
dc.contributor.authorAtli, Engin
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T11:08:08Z
dc.date.available2024-06-12T11:08:08Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractMarfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including FBN1 was used to determine the underlying pathogenic variants of Marfan syndrome. Three different variations, NM_000138.4( FBN1 ):c.229G>A(p.Gly77Arg), NM_000138.4( FBN1 ):c.165-2A>G (novel), NM_000138.4( FBN1 ):c.399delC (p.Cys134ValfsTer8) (novel) were determined in our three cases referred with a prediagnosis of Marfan syndrome. Our study has confirmed the utility of molecular testing in Marfan syndrome to support clinical diagnosis. With an accurate diagnosis and genetic counseling for prognosis of patients and family testing, the prenatal diagnosis will be possible.en_US
dc.identifier.doi10.1055/s-0040-1714092
dc.identifier.endpage71en_US
dc.identifier.issn2699-9404
dc.identifier.issue2en_US
dc.identifier.pmid32939518en_US
dc.identifier.startpage68en_US
dc.identifier.urihttps://doi.org/10.1055/s-0040-1714092
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22302
dc.identifier.volume7en_US
dc.identifier.wosWOS:000582488100008en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherThieme Medical Publ Incen_US
dc.relation.ispartofGlobal Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMarfan Syndromeen_US
dc.subjectNovel Variationen_US
dc.subjectNext-Generation Sequencingen_US
dc.titleTwo Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndromeen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu