Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey

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dc.authoridIsiyel, Emel/0000-0001-9364-6473
dc.authoridÇalışkan, Salim/0000-0002-3316-8032
dc.authoridAKMAN, Sema/0000-0001-7131-8911
dc.authorwosidTabel, Yilmaz/AAF-9801-2020
dc.authorwosidBahat Ozdogan, Elif Bahat/AAW-6278-2021
dc.authorwosidIsiyel, Emel/ABG-5251-2021
dc.authorwosidÇalışkan, Salim/ABC-1479-2020
dc.authorwosidAKMAN, Sema/C-1642-2016
dc.contributor.authorIsiyel, Emel
dc.contributor.authorEzgu, Sevcan A. Bakkaloglu
dc.contributor.authorCaliskan, Salim
dc.contributor.authorAkman, Sema
dc.contributor.authorAkil, Ipek
dc.contributor.authorTabel, Yilmaz
dc.contributor.authorAkinci, Nurver
dc.date.accessioned2024-08-04T20:42:51Z
dc.date.available2024-08-04T20:42:51Z
dc.date.issued2016
dc.departmentİnönü Üniversitesien_US
dc.description.abstractPrimary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1. Disease causing mutations have been found in fifteen patients from thirteen families (18%). Novel mutations have been found (c.458T > A (p.L153X), c.733_734delAA (p.Lys245Valfs*11), c.52 C > T (p.L18F)) in three of 13 families. There were 3-year lag time between initial symptoms and the time of PH1 is suspected; additionally, 5.5-year lag time between initial symptoms and definitive diagnosis. Consanguinity was detected in 77% of the patients with mutation. After genetic diagnosis, one patient received combined kidney and liver transplantation. AGXT gene sequencing is now the choice of diagnosis of PH1 due to its non-invasive nature compared to liver enzyme assay. Early diagnosis and accurate treatment in PH1 is important for better patient outcomes. (C) 2016 Published by Elsevier Inc.en_US
dc.identifier.doi10.1016/j.ymgme.2016.10.011
dc.identifier.endpage316en_US
dc.identifier.issn1096-7192
dc.identifier.issn1096-7206
dc.identifier.issue4en_US
dc.identifier.pmid27915025en_US
dc.identifier.scopus2-s2.0-85002804905en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage311en_US
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2016.10.011
dc.identifier.urihttps://hdl.handle.net/11616/97619
dc.identifier.volume119en_US
dc.identifier.wosWOS:000389967100004en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAcademic Press Inc Elsevier Scienceen_US
dc.relation.ispartofMolecular Genetics and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPrimary hyperoxaluria type 1en_US
dc.subjectAlanine glyoxylateaminotransferase (AGXT) gene mutationen_US
dc.titleMolecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkeyen_US
dc.typeArticleen_US

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