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NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

dc.rights.licenseopenen_US
dc.contributor.authorHERMIDA, Alexis
dc.contributor.authorADER, Flavie
dc.contributor.authorMILLAT, Gilles
dc.contributor.authorJEDRASZAK, Guillaume
dc.contributor.authorMAURY, Phillipe
dc.contributor.authorCADOR, Romain
dc.contributor.authorCATALAN, Pierre-Antoine
dc.contributor.authorCLERICI, Gaël
dc.contributor.authorCOMBES, Nicolas
dc.contributor.authorDE GROOTE, Pascal
dc.contributor.authorDUPIN-DEGUINE, Delphine
dc.contributor.authorESCHALIER, Romain
dc.contributor.authorFAIVRE, Laurence
dc.contributor.authorGARCIA, Patricia
dc.contributor.authorGUILLON, Benoit
dc.contributor.authorJANIN, Alexandre
dc.contributor.authorKUGENER, Beatrice
dc.contributor.authorLACKMY, Marylin
dc.contributor.authorLAREDO, Mikael
dc.contributor.authorLE GUILLOU, Xavier
dc.contributor.authorLESAFFRE, François
dc.contributor.authorLUCRON, Hugues
dc.contributor.authorMILHEM, Antoine
dc.contributor.authorNADEAU, Gwenaël
dc.contributor.authorNGUYEN, Karine
dc.contributor.authorPALMYRE, Aurélien
dc.contributor.authorPERDREAU, Elodie
dc.contributor.authorPICARD, François
dc.contributor.authorREBOTIER, Nicolas
dc.contributor.authorRICHARD, Pascale
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.contributor.authorSEITZ, Julien
dc.contributor.authorVERLOES, Alain
dc.contributor.authorVERNIER, Agathe
dc.contributor.authorWINUM, Pierre
dc.contributor.authorYABETA, Grace-A-Dieu
dc.contributor.authorBOUCHOT, Océane
dc.contributor.authorCHEVALIER, Philippe
dc.contributor.authorCHARRON, Philippe
dc.contributor.authorGANDJBAKHCH, Estelle
dc.date.accessioned2024-10-11T13:25:21Z
dc.date.available2024-10-11T13:25:21Z
dc.date.issued2024-02-01
dc.identifier.issn2574-8300en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/202436
dc.description.abstractEnFew clinical data are available on mutation carriers, and the gene's involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence of putative pathogenic variants in and to describe the phenotype and prognosis of patients carrying the variants. DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death/sudden infant death syndrome/idiopathic ventricular fibrillation were sequenced with a custom panel of genes. Index cases carrying at least one putative pathogenic variant in the gene were selected. Of the 9516 index patients sequenced, 31 were carriers of a putative pathogenic variant in only, including 2 with double variants and 29 with a single variant. Of the 29 unrelated probands with a single variant (16 males; median age at diagnosis, 32.0 [26.0-49.0] years), 21 presented with dilated cardiomyopathy (prevalence, 0.33%), and 3 presented with hypertrophic cardiomyopathy (prevalence, 0.14%). Three patients had idiopathic ventricular fibrillation, and there were 2 cases of sudden infant death syndrome (prevalence, 0.46%). For patients with dilated cardiomyopathy, the median left ventricle ejection fraction was 37.5% (26.25-50.0) at diagnosis and improved with treatment in 13 (61.9%). Over a median follow-up period of 6.0 years, we recorded 3 severe arrhythmic events and 2 severe hemodynamic events. Putative pathogenic variants were mainly associated with dilated cardiomyopathy; in these individuals, the prognosis appeared to be relatively good. However, severe and early onset phenotypes were also observed-especially in patients with double variants. We also detected variants in patients with hypertrophic cardiomyopathy and sudden infant death syndrome/idiopathic ventricular fibrillation, although a causal link could not be established.
dc.language.isoENen_US
dc.subject.enDilated cardiomyopathy
dc.subject.enHypertrophic cardiomyopathy
dc.subject.enMutation
dc.subject.enPhenotype
dc.subject.enPrognosis
dc.title.enNEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
dc.title.alternativeCirc Genom Precis Meden_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1161/CIRCGEN.123.004285en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38059363en_US
bordeaux.journalCirculation: Genomic and Precision Medicineen_US
bordeaux.pagee004285en_US
bordeaux.volume17en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Circulation:%20Genomic%20and%20Precision%20Medicine&rft.date=2024-02-01&rft.volume=17&rft.issue=1&rft.spage=e004285&rft.epage=e004285&rft.eissn=2574-8300&rft.issn=2574-8300&rft.au=HERMIDA,%20Alexis&ADER,%20Flavie&MILLAT,%20Gilles&JEDRASZAK,%20Guillaume&MAURY,%20Phillipe&rft.genre=article


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