Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations 英文参考文献.docVIP

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Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations 英文参考文献.doc

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Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations 英文参考文献

FatalCardiacArrhythmiaandLong-QTSyndromeina NewFormofCongenitalGeneralizedLipodystrophywith MuscleRippling(CGL4)DuetoPTRF-CAVINMutations AnnaRajab1.,VolkerStraub2.,LizaJ.McCann3,DominikSeelow4,5,RaymondaVaron6,RitaBarresi2, AnneSchulze7,BarbaraLucke4,5,SusanneLu¨tzkendorf4,5,MohsenKarbasiyan6,SebastianBachmann8,9, SimoneSpuler7,MarkusSchuelke4,5* 1Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman, 2Institute of Human Genetics, International Center for Life, NewcastleUniversity,NewcastleuponTyne,UnitedKingdom,3DepartmentofRheumatology,AlderHeyChildren’sHospital,Liverpool,UnitedKingdom,4Departmentof Neuropediatrics,Charite′ UniversityMedicalSchool,Berlin,Germany,5NeuroCureClinicalResearchCenter,Charite′ UniversityMedicalSchool,Berlin,Germany,6Institute ofHumanGenetics,Charite′ UniversityMedicalSchool,Berlin,Germany, 7MuscleResearchUnit,Experimental andClinical ResearchCenter,Charite′ UniversityMedical School,Berlin,Germany,8DepartmentofAnatomy,Charite′UniversityMedicalSchool,Berlin,Germany,9CoreFacilityforElectronMicroscopy,Charite′UniversityMedical School,Berlin,Germany Abstract Weinvestigatedeightfamilieswithanovelsubtypeofcongenitalgeneralizedlipodystrophy(CGL4)ofwhomfivemembers had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia,aswellassupraventricularandventriculartachycardias.Furthersymptomscomprisedmyopathywithmuscle rippling, skeletal as well as smooth-muscle hypertrophy, leading to impaired gastrointestinal motility and hypertrophic pyloric stenosis in some children. Additionally, we found impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability. Homozygosity mapping located the gene within 2 Mbp on chromosome 17. Prioritization of 74 candidategeneswithGeneDistillerforhighexpressioninmuscleandadipocytessuggestedPTRF-CAVIN(PolymeraseIand transcript release factor/Cavin) as the most probable cand