Zobraziť v EDS

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1

Uložené v:
Podrobná bibliografia
Názov: Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
Autori: Wong, PN, Wong, FKM, Mak, SK, Lo, KY, Wong, AKM, Tong, SF, Chan, YW, Lam, CW, Yuen, YP, Lai, CK, Tong, GMW
Informácie o vydavateľovi: Wichtig Editore srl. The Journal's web site is located at http://www.jnephrol.com/index.asp?a=current, 2012.
Rok vydania: 2012
Predmety: Dna Mutational Analysis, Adult, Male, Transaminases - Genetics, Recurrence, Hyperoxaluria - Genetics, Kidney Calculi - Blood - Genetics, Mutation, Humans, Middle Aged, Child
Popis: Background: 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.
link_to_subscribed_fulltext
Druh dokumentu: Article
Jazyk: English
Prístupová URL adresa: http://hdl.handle.net/10722/148553
Prístupové číslo: edsair.dedup.wf.002..2be3d1cff7edf16e7f011f4b4d9cafba
Databáza: OpenAIRE
FullText Text:
  Availability: 0
CustomLinks:
  – Url: https://explore.openaire.eu/search/publication?articleId=dedup_wf_002%3A%3A2be3d1cff7edf16e7f011f4b4d9cafba
    Name: EDS - OpenAIRE (s4221598)
    Category: fullText
    Text: View record at OpenAIRE
  – Url: https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=EBSCO&SrcAuth=EBSCO&DestApp=WOS&ServiceName=TransferToWoS&DestLinkType=GeneralSearchSummary&Func=Links&author=Wong%20PN
    Name: ISI
    Category: fullText
    Text: Nájsť tento článok vo Web of Science
    Icon: https://imagesrvr.epnet.com/ls/20docs.gif
    MouseOverText: Nájsť tento článok vo Web of Science
Header DbId: edsair
DbLabel: OpenAIRE
An: edsair.dedup.wf.002..2be3d1cff7edf16e7f011f4b4d9cafba
RelevancyScore: 765
AccessLevel: 3
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 765.336120605469
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Wong%2C+PN%22">Wong, PN</searchLink><br /><searchLink fieldCode="AR" term="%22Wong%2C+FKM%22">Wong, FKM</searchLink><br /><searchLink fieldCode="AR" term="%22Mak%2C+SK%22">Mak, SK</searchLink><br /><searchLink fieldCode="AR" term="%22Lo%2C+KY%22">Lo, KY</searchLink><br /><searchLink fieldCode="AR" term="%22Wong%2C+AKM%22">Wong, AKM</searchLink><br /><searchLink fieldCode="AR" term="%22Tong%2C+SF%22">Tong, SF</searchLink><br /><searchLink fieldCode="AR" term="%22Chan%2C+YW%22">Chan, YW</searchLink><br /><searchLink fieldCode="AR" term="%22Lam%2C+CW%22">Lam, CW</searchLink><br /><searchLink fieldCode="AR" term="%22Yuen%2C+YP%22">Yuen, YP</searchLink><br /><searchLink fieldCode="AR" term="%22Lai%2C+CK%22">Lai, CK</searchLink><br /><searchLink fieldCode="AR" term="%22Tong%2C+GMW%22">Tong, GMW</searchLink>
– Name: Publisher
  Label: Publisher Information
  Group: PubInfo
  Data: Wichtig Editore srl. The Journal's web site is located at http://www.jnephrol.com/index.asp?a=current, 2012.
– Name: DatePubCY
  Label: Publication Year
  Group: Date
  Data: 2012
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Dna+Mutational+Analysis%22">Dna Mutational Analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Adult%22">Adult</searchLink><br /><searchLink fieldCode="DE" term="%22Male%22">Male</searchLink><br /><searchLink fieldCode="DE" term="%22Transaminases+-+Genetics%22">Transaminases - Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Recurrence%22">Recurrence</searchLink><br /><searchLink fieldCode="DE" term="%22Hyperoxaluria+-+Genetics%22">Hyperoxaluria - Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Kidney+Calculi+-+Blood+-+Genetics%22">Kidney Calculi - Blood - Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Mutation%22">Mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Humans%22">Humans</searchLink><br /><searchLink fieldCode="DE" term="%22Middle+Aged%22">Middle Aged</searchLink><br /><searchLink fieldCode="DE" term="%22Child%22">Child</searchLink>
– Name: Abstract
  Label: Description
  Group: Ab
  Data: Background: 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.<br />link_to_subscribed_fulltext
– Name: TypeDocument
  Label: Document Type
  Group: TypDoc
  Data: Article
– Name: Language
  Label: Language
  Group: Lang
  Data: English
– Name: URL
  Label: Access URL
  Group: URL
  Data: <link linkTarget="URL" linkTerm="http://hdl.handle.net/10722/148553" linkWindow="_blank">http://hdl.handle.net/10722/148553</link>
– Name: AN
  Label: Accession Number
  Group: ID
  Data: edsair.dedup.wf.002..2be3d1cff7edf16e7f011f4b4d9cafba
PLink https://erproxy.cvtisr.sk/sfx/access?url=https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=edsair&AN=edsair.dedup.wf.002..2be3d1cff7edf16e7f011f4b4d9cafba
RecordInfo BibRecord:
  BibEntity:
    Languages:
      – Text: English
    Subjects:
      – SubjectFull: Dna Mutational Analysis
        Type: general
      – SubjectFull: Adult
        Type: general
      – SubjectFull: Male
        Type: general
      – SubjectFull: Transaminases - Genetics
        Type: general
      – SubjectFull: Recurrence
        Type: general
      – SubjectFull: Hyperoxaluria - Genetics
        Type: general
      – SubjectFull: Kidney Calculi - Blood - Genetics
        Type: general
      – SubjectFull: Mutation
        Type: general
      – SubjectFull: Humans
        Type: general
      – SubjectFull: Middle Aged
        Type: general
      – SubjectFull: Child
        Type: general
    Titles:
      – TitleFull: Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Wong, PN
      – PersonEntity:
          Name:
            NameFull: Wong, FKM
      – PersonEntity:
          Name:
            NameFull: Mak, SK
      – PersonEntity:
          Name:
            NameFull: Lo, KY
      – PersonEntity:
          Name:
            NameFull: Wong, AKM
      – PersonEntity:
          Name:
            NameFull: Tong, SF
      – PersonEntity:
          Name:
            NameFull: Chan, YW
      – PersonEntity:
          Name:
            NameFull: Lam, CW
      – PersonEntity:
          Name:
            NameFull: Yuen, YP
      – PersonEntity:
          Name:
            NameFull: Lai, CK
      – PersonEntity:
          Name:
            NameFull: Tong, GMW
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 29
              M: 05
              Type: published
              Y: 2012
          Identifiers:
            – Type: issn-locals
              Value: edsair
ResultId 1