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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O'Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Abou Jamra, Rami; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B.
Affiliation
  • Duncan AR; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Polovitskaya MM; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany; Max-Delbrück-Centrum für Molekulare Medizin (MDC), 13125 Berlin, Germany.
  • Gaitán-Peñas H; Unitat de Fisiologia, Departament de Ciències Fisiològiques, IDIBELL-Institute of Neurosciences, Universitat de Barcelona-CIBERER, L'Hospitalet de Llobregat, 08907 Barcelona, Spain.
  • Bertelli S; Istituto di Biofisica, 16149 Genova, Italy; Scuola Internazionale Superiore di Studi Avanzati (SISSA), 34136 Trieste, Italy.
  • VanNoy GE; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Grant PE; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics & Genomics, Department of Pediatrics, Bo
  • Valivullah Z; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Lovgren AK; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • England EM; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.
  • Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Madden JA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.
  • Schmitz-Abe K; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kritzer A; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.
  • Hawley P; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.
  • Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Alfieri P; Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Colafati GS; Oncological Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine University, 40225 Düsseldorf, Germany.
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Luppe J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Koch-Hogrebe M; Vestische Kinder-und Jugendklinik Datteln, Universität Witten-Herdecke, 45711 Datteln, Germany.
  • Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Neira-Fresneda J; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Lehman A; Provincial Medical Genetics Program, University of British Columbia, Department of Medical Genetics, Children's and Women's Health Center of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Boerkoel CF; Provincial Medical Genetics Program, University of British Columbia, Department of Medical Genetics, Children's and Women's Health Center of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Seath K; Provincial Medical Genetics Program, University of British Columbia, Department of Medical Genetics, Children's and Women's Health Center of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Clarke L; Provincial Medical Genetics Program, University of British Columbia, Department of Medical Genetics, Children's and Women's Health Center of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • van Ierland Y; Erasmus University Medical Center, Department of Clinical Genetics, 3000 CA Rotterdam, the Netherlands.
  • Argilli E; Brain Development Research Program, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Sherr EH; Brain Development Research Program, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Maiorana A; Neonatology, Ospedale San Giovanni Calibita Fatebenefratelli, 00186 Roma, Italy.
  • Diel T; Division of Neonatology and Pediatric Critical Care Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Estévez R; Unitat de Fisiologia, Departament de Ciències Fisiològiques, IDIBELL-Institute of Neurosciences, Universitat de Barcelona-CIBERER, L'Hospitalet de Llobregat, 08907 Barcelona, Spain.
  • Jentsch TJ; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany; Max-Delbrück-Centrum für Molekulare Medizin (MDC), 13125 Berlin, Germany; NeuroCure Cluster of Excellence, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany. Electronic address: jentsch@fmp-berlin.de.
  • Pusch M; Istituto di Biofisica, 16149 Genova, Italy.
  • Agrawal PB; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 0
Am J Hum Genet ; 108(8): 1450-1465, 2021 08 05.
Article in En | MEDLINE | ID: mdl-34186028
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Chloride Channels / Disease Models, Animal / Neurodevelopmental Disorders / Ion Channels / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Year: 2021 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Chloride Channels / Disease Models, Animal / Neurodevelopmental Disorders / Ion Channels / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Year: 2021 Type: Article