Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome

dc.contributor.authorErgören, Mahmut Çerkez
dc.contributor.authorManara, Elena
dc.contributor.authorPaolacci, Stefano T
dc.contributor.authorTuncel, Gülten
dc.contributor.authorGül, Şeref
dc.contributor.authorBertelli, Matteo
dc.contributor.buuauthorTemel, Şehime Gülsün
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Temel Tıp Bilimleri Bölümü.tr_TR
dc.contributor.researcheridAAG-8385-2021tr_TR
dc.contributor.scopusid6507885442tr_TR
dc.date.accessioned2023-10-17T11:59:18Z
dc.date.available2023-10-17T11:59:18Z
dc.date.issued2020-12
dc.description.abstractNeonatal progeroid syndrome or Wiedemann-Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have indicated that WRS patients have compound heterozygote variations in thePOLR3A(RNA polymerase III subunit 3A; MIM 614258) gene that might be responsible for the disease phenotype. In this study we report a WRS patient that has compound heterozygote variations in thePOLR3Agene. One of the reported variations in our patient, c.3568C>T, p.(Gln1190Ter), is a novel variation that was not reported before. The other variant, c.3337-11T>C, was previously shown in WRS patients in trans with other variations.en_US
dc.identifier.citationTemel, Ş. G. vd. (2020). "Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome". European Journal of Human Genetics, 28(12), 1675-1680.en_US
dc.identifier.endpage1680tr_TR
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.issue12tr_TR
dc.identifier.pubmed32555393tr_TR
dc.identifier.scopus2-s2.0-85086594223tr_TR
dc.identifier.startpage1675tr_TR
dc.identifier.urihttps://doi.org/10.1038/s41431-020-0673-1
dc.identifier.urihttps://www.nature.com/articles/s41431-020-0673-1
dc.identifier.urihttp://hdl.handle.net/11452/34407
dc.identifier.volume28tr_TR
dc.identifier.wos000541211700001tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherSpringernatureen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.collaborationYurtdışıtr_TR
dc.relation.journalEuropean Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBiochemistry & molecular biologyen_US
dc.subjectGenetics & heredityen_US
dc.subjectProgeroid syndromeen_US
dc.subjectIII causeen_US
dc.subjectMutationsen_US
dc.subjectGenesen_US
dc.subject.emtreeRna polymerase iii subunit 3aen_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeDNA directed RNA polymerase IIIen_US
dc.subject.emtreePOLR3A protein, humanen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAmino acid sequenceen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeClinical examinationen_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeComputer modelen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGenetic backgrounden_US
dc.subject.emtreeGenetic disorderen_US
dc.subject.emtreeHeterozygoteen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeKaryotypingen_US
dc.subject.emtreeMolecular geneticsen_US
dc.subject.emtreePhenotypeen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeSequence homologyen_US
dc.subject.emtreeWiedemann Rautenstrauch syndromeen_US
dc.subject.emtreeAlleleen_US
dc.subject.emtreeChemistryen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeIntrauterine growth retardationen_US
dc.subject.emtreeMolecular dynamicsen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreePathologyen_US
dc.subject.emtreeProgeriaen_US
dc.subject.meshAllelesen_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal growth retardationen_US
dc.subject.meshHumansen_US
dc.subject.meshMolecular dynamics simulationen_US
dc.subject.meshMutationen_US
dc.subject.meshProgeriaen_US
dc.subject.meshRNA polymerase IIIen_US
dc.subject.scopusAgenesis; Scrotum; Congenital generalized lipodystrophyen_US
dc.subject.wosBiochemistry & molecular biologyen_US
dc.subject.wosGenetics & heredityen_US
dc.titleUnique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndromeen_US
dc.typeArticle
dc.wos.quartileQ2en_US

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