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Article: Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor

TitleNovel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
Authors
Issue Date2001
PublisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/ajkd
Citation
American Journal Of Kidney Diseases, 2001, v. 38 n. 6, p. 1307-1310 How to Cite?
AbstractWe identified a patient with primary hyperoxaluria type 2 (PH2) showing recurrent stone formation, nephrocalcinosis, end-stage renal failure, and rapid oxalate deposition after renal transplantation from a living related donor. Urinary organic acid analysis performed after renal transplantation confirmed the diagnosis of PH2. We analyzed the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene of the patient. DNA sequencing of all nine exons and exon-intron boundaries showed a novel homozygous mutation deleting the last two nucleotides of exon 8, ie, 862delTG. This deletion results in a frameshift and introduction of a premature stop codon at codon 310, ie, Ala310Stop. One of the patient's sisters is heterozygous for this mutation, and the other sister, who is the donor, does not have this mutation. The rapid deposition of oxalate in the transplanted kidney indicates that the kidney is not a major site of oxalate production. The more favorable long-term prognosis of PH2 needs to be reevaluated now that the molecular basis of PH2 has been established. DNA-based diagnosis will facilitate carrier detection, prenatal diagnosis, genetic counseling, and selection of living related donors. © 2001 by the National Kidney Foundation, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148261
ISSN
2015 Impact Factor: 6.269
2015 SCImago Journal Rankings: 2.313
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorLau, LKen_US
dc.contributor.authorTong, KLen_US
dc.contributor.authorChan, YWen_US
dc.date.accessioned2012-05-29T06:11:51Z-
dc.date.available2012-05-29T06:11:51Z-
dc.date.issued2001en_US
dc.identifier.citationAmerican Journal Of Kidney Diseases, 2001, v. 38 n. 6, p. 1307-1310en_US
dc.identifier.issn0272-6386en_US
dc.identifier.urihttp://hdl.handle.net/10722/148261-
dc.description.abstractWe identified a patient with primary hyperoxaluria type 2 (PH2) showing recurrent stone formation, nephrocalcinosis, end-stage renal failure, and rapid oxalate deposition after renal transplantation from a living related donor. Urinary organic acid analysis performed after renal transplantation confirmed the diagnosis of PH2. We analyzed the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene of the patient. DNA sequencing of all nine exons and exon-intron boundaries showed a novel homozygous mutation deleting the last two nucleotides of exon 8, ie, 862delTG. This deletion results in a frameshift and introduction of a premature stop codon at codon 310, ie, Ala310Stop. One of the patient's sisters is heterozygous for this mutation, and the other sister, who is the donor, does not have this mutation. The rapid deposition of oxalate in the transplanted kidney indicates that the kidney is not a major site of oxalate production. The more favorable long-term prognosis of PH2 needs to be reevaluated now that the molecular basis of PH2 has been established. DNA-based diagnosis will facilitate carrier detection, prenatal diagnosis, genetic counseling, and selection of living related donors. © 2001 by the National Kidney Foundation, Inc.en_US
dc.languageengen_US
dc.publisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/ajkden_US
dc.relation.ispartofAmerican Journal of Kidney Diseasesen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAlcohol Oxidoreductases - Geneticsen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshDna - Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshFrameshift Mutationen_US
dc.subject.meshGenetic Testingen_US
dc.subject.meshHumansen_US
dc.subject.meshHydroxypyruvate Reductaseen_US
dc.subject.meshHyperoxaluria - Geneticsen_US
dc.subject.meshKidney Calculi - Geneticsen_US
dc.subject.meshKidney Failure, Chronic - Genetics - Therapyen_US
dc.subject.meshKidney Transplantationen_US
dc.subject.meshMaleen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.titleNovel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donoren_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.pmid11728965-
dc.identifier.scopuseid_2-s2.0-0035720033en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035720033&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume38en_US
dc.identifier.issue6en_US
dc.identifier.spage1307en_US
dc.identifier.epage1310en_US
dc.identifier.isiWOS:000172432600021-
dc.publisher.placeUnited Statesen_US

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