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Article: Novel mutations of the AGXT gene causing primary hyperoxaluria type 1

TitleNovel mutations of the AGXT gene causing primary hyperoxaluria type 1
Authors
Issue Date2004
PublisherWichtig Editore srl. The Journal's web site is located at http://www.jnephrol.com/index.asp?a=current
Citation
Journal Of Nephrology, 2004, v. 17 n. 3, p. 436-440 How to Cite?
AbstractBackground: Primary hyperoxaluria type 1 (PH1), an inherited cause of nephrolithiasis, is due to a functional defect of the liver-speciffc peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). A definitive PH1 diagnosis can be established by analyzing AGT activity in liver tissue or mutation analysis of the AGXT gene. Methods: The molecular basis of PH1 in three Chinese patients, two with adult-onset and one with childhood-onset recurrent nephrolithiasis, was established by analyzing the entire AGXT gene. Results: Three novel mutations (c2T>C, c817insAG and c844C>T) and two previously reported mutations (c33insC and 679-IVS6+2delAAgt) were identified. c2T>C converts the initiation codon from ATG to ACG, which predicts significant reduction, if not complete abolition, of protein translation. c817insAG leads to a frameshift and changes the amino acid sequence after codon 274. c844C>T changes glutamine at codon 282 to a termination codon, resulting in protein truncation. Conclusions: This is the first report describing AGXT gene mutations in Chinese patients with PH1. AGXT genotypes cannot fully explain the clinical heterogeneity of PH1, and other factors involved in disease pathogenesis remain to be identified. Our experience emphasizes the importance of excluding PH1 in patients with recurrent nephrolithiasis to avoid delay or inappropriate management.
Persistent Identifierhttp://hdl.handle.net/10722/148553
ISSN
2015 Impact Factor: 1.352
2015 SCImago Journal Rankings: 0.689
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYuen, YPen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorTong, GMWen_US
dc.contributor.authorWong, PNen_US
dc.contributor.authorWong, FKMen_US
dc.contributor.authorMak, SKen_US
dc.contributor.authorLo, KYen_US
dc.contributor.authorWong, AKMen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorLam, CWen_US
dc.date.accessioned2012-05-29T06:13:41Z-
dc.date.available2012-05-29T06:13:41Z-
dc.date.issued2004en_US
dc.identifier.citationJournal Of Nephrology, 2004, v. 17 n. 3, p. 436-440en_US
dc.identifier.issn1121-8428en_US
dc.identifier.urihttp://hdl.handle.net/10722/148553-
dc.description.abstractBackground: Primary hyperoxaluria type 1 (PH1), an inherited cause of nephrolithiasis, is due to a functional defect of the liver-speciffc peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). A definitive PH1 diagnosis can be established by analyzing AGT activity in liver tissue or mutation analysis of the AGXT gene. Methods: The molecular basis of PH1 in three Chinese patients, two with adult-onset and one with childhood-onset recurrent nephrolithiasis, was established by analyzing the entire AGXT gene. Results: Three novel mutations (c2T>C, c817insAG and c844C>T) and two previously reported mutations (c33insC and 679-IVS6+2delAAgt) were identified. c2T>C converts the initiation codon from ATG to ACG, which predicts significant reduction, if not complete abolition, of protein translation. c817insAG leads to a frameshift and changes the amino acid sequence after codon 274. c844C>T changes glutamine at codon 282 to a termination codon, resulting in protein truncation. Conclusions: This is the first report describing AGXT gene mutations in Chinese patients with PH1. AGXT genotypes cannot fully explain the clinical heterogeneity of PH1, and other factors involved in disease pathogenesis remain to be identified. Our experience emphasizes the importance of excluding PH1 in patients with recurrent nephrolithiasis to avoid delay or inappropriate management.en_US
dc.languageengen_US
dc.publisherWichtig Editore srl. The Journal's web site is located at http://www.jnephrol.com/index.asp?a=currenten_US
dc.relation.ispartofJournal of Nephrologyen_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshHumansen_US
dc.subject.meshHyperoxaluria - Geneticsen_US
dc.subject.meshKidney Calculi - Blood - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshRecurrenceen_US
dc.subject.meshTransaminases - Geneticsen_US
dc.titleNovel mutations of the AGXT gene causing primary hyperoxaluria type 1en_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid15365967-
dc.identifier.scopuseid_2-s2.0-4243144075en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-4243144075&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume17en_US
dc.identifier.issue3en_US
dc.identifier.spage436en_US
dc.identifier.epage440en_US
dc.identifier.isiWOS:000222315400016-
dc.publisher.placeItalyen_US

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