No Evidence for Mutations of CTCFLBORIS in Silver-Russell Syndrome Patients with IGF2H19 Imprinting Control Region 1 Hypomethylation 英文参考文献.docVIP

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No Evidence for Mutations of CTCFLBORIS in Silver-Russell Syndrome Patients with IGF2H19 Imprinting Control Region 1 Hypomethylation 英文参考文献.doc

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No Evidence for Mutations of CTCFLBORIS in Silver-Russell Syndrome Patients with IGF2H19 Imprinting Control Region 1 Hypomethylation 英文参考文献

NoEvidenceforMutationsofCTCFL/BORISinSilver- RussellSyndromePatientswithIGF2/H19Imprinting ControlRegion1Hypomethylation JeremiahBernier-Latmani1,AlessandraBaumer2,PhillipShaw1* 1Experimental Pathology Division, Institute of Pathology, University of Lausanne, Lausanne, Switzerland, 2Institute of Medical Genetics, University of Zu¨rich, Schwerzenbach,Switzerland Abstract Background: Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease. Although no protein coding gene defects have been reported in SRS patients, approximately 50% of SRS patients carry epimutations (hypomethylation)attheIGF2/H19imprintingcontrolregion1(ICR1).PropermethylationatICR1iscrucialfortheimprinted expressionofIGF2,afetalgrowthfactor.CTCFL,atestis-specificprotein,hasrecentlybeenproposedtoplayaroleinthe establishmentofDNAmethylationatthemurineequivalentofICR1.AscreenwasundertakentoassesswhetherCTCFLis mutatedinSRSpatientswithhypomethylation,toexplorealinkbetweentheobservedepimutationsandageneticcauseof thedisease. Methodology/PrincipalFindings:DNAwasobtainedfrom36SRSpatientswithhypomethylationatICR1.AllCTCFLcoding exons were sequenced and analyzed for duplications/deletions using both multiplex ligation-dependent probe amplification,withacustomCTCFLprobeset,andgenomicqPCR.NovelSNPalleleswereanalyzedforpotentialdifferential splicinginvitroutilizingasplicingassay.NeithermutationsofCTCFLnorduplications/deletionswereobserved.Fivenovel SNPswereidentifiedandhavebeensubmittedtodbSNP.InsilicosplicepredictionsuggestedonenovelSNP,IVS2-66A.C, activated a cryptic splice site, resulting in aberrant splicing and premature termination. In vitro splicing assays did not confirmpredictedaberrantsplicing. Conclusions/Significance: As no mutations were detected at CTCFL in the patients examined, we conclude that genetic alterationsofCTCFLarenotresponsiblefortheSRShypomethylation.Wesuggestthatanalysisofothergenesinvolvedin theestablishment of DNAmethylation at imprinted genes, suchas