Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies

HomeCirculation: Genomic and Precision MedicineAhead of PrintBiallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies No AccessLetterRequest AccessAboutView PDFSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessLetterRequest AccessBiallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Adèle Faucherre, Jourdano Mancilla Abaroa, Chris Jopling, Sophie Collardeau Frachon, Jelena Radojevic, Salima El Chehadeh and Gilles Millat Alexandre JaninAlexandre Janin Correspondence to: Alexandre Janin, PharmD, PhD, Gilles Millat, PhD Laboratoire de Cardiogénétique Moléculaire, Laboratoire de Cardiogénétique Moléculaire Centre de Biologie Est Centre de Biologie Est F-69677 BRON Cedex F-69677, France, Email E-mail Address: [email protected] https://orcid.org/0000-0003-3571-003X Laboratoire de Cardiogénétique Moléculaire, Hospices Civils de Lyon. (A.J., G.M.) NGS sequencing platform for molecular diagnosis, Hospices Civils de Lyon. (A.J., G.M.) Université de Lyon & Université Lyon (A.J., E.G., P.C., S.C.F., G.M.). Search for more papers by this author , Evan GouyEvan Gouy https://orcid.org/0000-0001-7928-754X Université de Lyon & Université Lyon (A.J., E.G., P.C., S.C.F., G.M.). Genetics Department, University Hospital of Lyon, Bron (E.G., A.P.). Bessereau’team, MeLiS (Mechanisms in integrated Life Sciences), CNRS UMR 5284 INSERM U1314, Claude Bernard University Lyon (E.G.). Search for more papers by this author , Audrey PutouxAudrey Putoux https://orcid.org/0000-0001-5496-4604 Genetics Department, University Hospital of Lyon, Bron (E.G., A.P.). Search for more papers by this author , Thomas Perouse-de-MonclosThomas Perouse-de-Monclos https://orcid.org/0000-0002-2062-3411 Paediatric Cardiology and Congenital Heart Disease Department, Cardiovascular Louis Pradel Hospital, Hospices Civils de Lyon. (T.P.-d.-M.) Search for more papers by this author , Philippe ChevalierPhilippe Chevalier https://orcid.org/0000-0001-8185-2229 Université de Lyon & Université Lyon (A.J., E.G., P.C., S.C.F., G.M.). Hôpital Cardiologique Louis Pradel, Service de Rythmologie, Lyon (P.C.). Search for more papers by this author , Adèle FaucherreAdèle Faucherre Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, LabEx ICST, Montpellier (A.F., J.M.A., C.J.). Search for more papers by this author , Jourdano Mancilla AbaroaJourdano Mancilla Abaroa https://orcid.org/0000-0002-7557-6819 Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, LabEx ICST, Montpellier (A.F., J.M.A., C.J.). Search for more papers by this author , Chris JoplingChris Jopling https://orcid.org/0000-0003-0950-0063 Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, LabEx ICST, Montpellier (A.F., J.M.A., C.J.). Search for more papers by this author , Sophie Collardeau FrachonSophie Collardeau Frachon https://orcid.org/0000-0001-8604-1089 Institut de Pathologie, Hôpital Femme Mère Enfant, Hospices Civils de Lyon. (S.C.F.) Université de Lyon & Université Lyon (A.J., E.G., P.C., S.C.F., G.M.). Search for more papers by this author , Jelena RadojevicJelena Radojevic Service de Cardiologie Congénitale, Strasbourg (J.R.). Search for more papers by this author , Salima El ChehadehSalima El Chehadeh Service de Génétique Médicale, Institut de Génétique Médicale d’Alsace (IGMA), Centre de Référence des Déficiences Intellectuelles de Causes Rares, Hôpitaux Universitaires de Strasbourg, Centre de Recherche en Biomédecine de Strasbourg (CRBS), Strasbourg, France (S.E.C.). Search for more papers by this author and Gilles MillatGilles Millat Gilles Millat, PhD, Laboratoire de Cardiogénétique Moléculaire Cardiovascular Louis Pradel Hospital, Hospices Civils de Lyon, Email E-mail Address: [email protected] https://orcid.org/0000-0001-6127-0694 Laboratoire de Cardiogénétique Moléculaire, Hospices Civils de Lyon. (A.J., G.M.) NGS sequencing platform for molecular diagnosis, Hospices Civils de Lyon. (A.J., G.M.) Université de Lyon & Université Lyon (A.J., E.G., P.C., S.C.F., G.M.). Search for more papers by this author Originally published4 Apr 2023https://doi.org/10.1161/CIRCGEN.122.003881Circulation: Genomic and Precision Medicine. 2023;0:e003881FootnotesFor Sources of Funding and Disclosures, see page xxx.Correspondence to: Alexandre Janin, PharmD, PhD, Gilles Millat, PhD Laboratoire de Cardiogénétique Moléculaire, Laboratoire de Cardiogénétique Moléculaire Centre de Biologie Est Centre de Biologie Est F-69677 BRON Cedex F-69677, France, Email alexandre.[email protected]frGilles Millat, PhD, Laboratoire de Cardiogénétique Moléculaire Cardiovascular Louis Pradel Hospital, Hospices Civils de Lyon, Email gilles.[email protected]fr Previous Back to top Next FiguresReferencesRelatedDetails Advertisement Article InformationMetrics © 2023 American Heart Association, Inc.https://doi.org/10.1161/CIRCGEN.122.003881PMID: 37013823 Originally publishedApril 4, 2023 Keywordshospitalizationchildautopsyinfantshock, cardiogenicPDF download Advertisement SubjectsCardiomyopathySudden Cardiac Death