A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations 英文参考文献.docVIP

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A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations 英文参考文献.doc

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A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations 英文参考文献

ASpectrumofSevereFamilialLiverDisordersAssociate withTelomeraseMutations RodrigoT.Calado1.*,JoshuaA.Regal1.,DavidE.Kleiner2,DavidS.Schrump3,NathanR.Peterson1, VeronicaPons5,StephenJ.Chanock4,PeterM.Lansdorp6,NealS.Young1 1HematologyBranch,NationalHeart,Lung,andBloodInstitute,NationalInstitutesofHealth,Bethesda,Maryland,UnitedStatesofAmerica,2LaboratoryofPathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America, 3Thoracic Oncology Section, Surgery Branch, National Cancer Institute,NationalInstitutesofHealth,Bethesda,Maryland,UnitedStatesofAmerica,4DivisionofCancerEpidemiologyandGenetics,NationalCancerInstitute,National InstitutesofHealth,Bethesda,Maryland,UnitedStatesofAmerica,5HematologyDepartment,HospitalValld’Hebron,Barcelona,Spain,6BritishColumbiaCancerAgency andDepartmentofMedicine,UniversityofBritishColumbia,Vancouver,BritishColumbia,Canada Abstract Background: Telomerase is an enzyme specialized in maintaining telomere lengths in highly proliferative cells. Loss-of- function mutations cause critical telomere shortening and are associated with the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia and with idiopathic pulmonary fibrosis. Here, we sought to determine the spectrumofclinicalmanifestationsassociatedwithtelomeraseloss-of-functionmutations. Methodology/PrincipalFindings:Sixty-nineindividualsfromfiveunrelatedfamilieswithavarietyofhematologic,hepatic, and autoimmune disorders were screened for telomerase complex gene mutations; leukocyte telomere length was measuredbyflowfluorescenceinsituhybridizationinmutationcarriersandsomenon-carriers;theeffectsoftheidentified mutationsontelomeraseactivityweredetermined;andgeneticandclinicaldatawerecorrelated.Insixgenerationsofa largefamily,aloss-of-functionmutationinthetelomeraseenzymegeneTERTassociatedwithseveretelomereshortening andarangeofhematologicmanifestations,frommacrocytosistoacutemyeloidleukemia,withsevereliverdiseasesmarked b