Combination of novel c.3484g > t/p.glu162ter variant in abcb11 and c.208g > a/p.asp70asn variant in atp8b1 are associated with severe symptoms in progressive family ıntrahepatic cholestasis

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dc.authorid0000-0003-2469-9509
dc.authorid0000-0001-6768-1275
dc.authorid0000-0002-6054-9244
dc.contributor.authorBekdaş, Mervan
dc.contributor.authorCan, Güray
dc.contributor.authorEröz, Recep
dc.contributor.authorDüzcü, Selma Erdoğan
dc.date.accessioned2021-06-23T19:53:50Z
dc.date.available2021-06-23T19:53:50Z
dc.date.issued2020
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractProgressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in theABCB11gene and a c.208G> A/p.Asp70Asn variant in theATP8B1gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.en_US
dc.identifier.doi10.1055/s-0039-1700971
dc.identifier.endpage288en_US
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue04en_US
dc.identifier.pmid32765934en_US
dc.identifier.startpage285en_US
dc.identifier.urihttps://doi.org/10.1055/s-0039-1700971
dc.identifier.urihttps://hdl.handle.net/20.500.12491/10281
dc.identifier.volume09en_US
dc.identifier.wosWOS:000553529300011en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorBekdaş, Mervan
dc.institutionauthorCan, Güray
dc.institutionauthorDüzcü, Selma Erdoğan
dc.language.isoenen_US
dc.publisherGeorg Thieme Verlag Kgen_US
dc.relation.ispartofJournal Of Pediatric Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectProgressive Family Intrahepatic Cholestasisen_US
dc.subjectChronic Cholestasisen_US
dc.subjectABCB11geneen_US
dc.subjectMutationen_US
dc.subjectChildhooden_US
dc.titleCombination of novel c.3484g > t/p.glu162ter variant in abcb11 and c.208g > a/p.asp70asn variant in atp8b1 are associated with severe symptoms in progressive family ıntrahepatic cholestasisen_US
dc.typeArticleen_US

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