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

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dc.contributor.authorIsiyel E.
dc.contributor.authorEzgu S.A.B.
dc.contributor.authorCaliskan S.
dc.contributor.authorAkman S.
dc.contributor.authorAkil I.
dc.contributor.authorTabel Y.
dc.contributor.authorAkinci N.
dc.contributor.authorOzdogan E.B.
dc.contributor.authorOzel A.
dc.contributor.authorEroglu F.K.
dc.contributor.authorEzgu F.S.
dc.date.accessioned2024-07-22T08:11:25Z
dc.date.available2024-07-22T08:11:25Z
dc.date.issued2016
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. © 2016
dc.identifier.DOI-ID10.1016/j.ymgme.2016.10.011
dc.identifier.issn10967192
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/15654
dc.language.isoEnglish
dc.publisherAcademic Press Inc.
dc.subjectAdolescent
dc.subjectAdult
dc.subjectBase Sequence
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectConsanguinity
dc.subjectEarly Diagnosis
dc.subjectExons
dc.subjectFemale
dc.subjectHumans
dc.subjectHyperoxaluria, Primary
dc.subjectInfant
dc.subjectMale
dc.subjectMutation
dc.subjectTransaminases
dc.subjectYoung Adult
dc.subjectalanine glyoxylateaminotransferase
dc.subjectaminotransferase
dc.subjectunclassified drug
dc.subjectwhewellite
dc.subjectAlanine-glyoxylate transaminase
dc.subjectaminotransferase
dc.subjectabdominal pain
dc.subjectadult
dc.subjectArticle
dc.subjectbladder stone
dc.subjectchild
dc.subjectchronic kidney disease
dc.subjectconsanguinity
dc.subjectearly diagnosis
dc.subjectechography
dc.subjectfamily history
dc.subjectgene mutation
dc.subjectgene sequence
dc.subjecthematuria
dc.subjecthuman
dc.subjecthyperoxaluria
dc.subjectkidney calcification
dc.subjectkidney disease
dc.subjectkidney function test
dc.subjectkidney transplantation
dc.subjectliver transplantation
dc.subjectmajor clinical study
dc.subjectmicturition disorder
dc.subjectmutational analysis
dc.subjectnephrolithiasis
dc.subjectoxalosis 1
dc.subjectpriority journal
dc.subjectrecurrent infection
dc.subjectsequence analysis
dc.subjectTurkey (republic)
dc.subjecturinary tract infection
dc.subjectadolescent
dc.subjectearly diagnosis
dc.subjectexon
dc.subjectfemale
dc.subjectgenetics
dc.subjectinfant
dc.subjectmale
dc.subjectmutation
dc.subjectnucleotide sequence
dc.subjectoxalosis 1
dc.subjectpathophysiology
dc.subjectpreschool child
dc.subjectyoung adult
dc.titleMolecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey
dc.typeArticle

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