A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation

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dc.contributor.authorAltindas, Betul Okur
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorOflaz, Mehmet Burhan
dc.contributor.authorGunes, Muhammed
dc.contributor.authorYildirim, Mahmut Selman
dc.date.accessioned2024-02-23T14:38:08Z
dc.date.available2024-02-23T14:38:08Z
dc.date.issued2022
dc.departmentNEÜen_US
dc.description.abstractLoeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in the transforming growth factor-beta pathway. Here, we report a homozygous case with LDS. A newborn male patient who had congenital diaphragmatic hernia, aortic dilatation and talipes equinovarus was referred to our medical genetics polyclinic. After clinical evaluation, next generation sequencing analysis showed a homozygous c.859C>T pathogenic missense variation [R287W (p.Arg287Trp)] in the SMAD3 gene. It was confirmed that the parents harbor the variant heterozygously. Due to the autosomal dominant inheritance pattern, rarely seen biallelic individuals are expected to have severe clinical conditions. Since there was only one previous report of an individual harboring a homozygous SMAD3 variant in the literature; this case was presented to further enhance our understanding of LDS.en_US
dc.identifier.doi10.4274/haseki.galenos.2021.7730
dc.identifier.endpage88en_US
dc.identifier.issn1302-0072
dc.identifier.issn2147-2688
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85124937808en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage84en_US
dc.identifier.urihttps://doi.org/10.4274/haseki.galenos.2021.7730
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16368
dc.identifier.volume60en_US
dc.identifier.wosWOS:000755158300014en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofHaseki Tip Bulteni-Medical Bulletin Of Hasekien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectLoeys-Dietz Syndromeen_US
dc.subjectLdsen_US
dc.subjectSmad3en_US
dc.subjectTgf-Betaen_US
dc.titleA Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variationen_US
dc.typeArticleen_US

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