Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Adolescent Animals Child Child, Preschool Chloride Channels / genetics Disease Models, Animal Female Homozygote Humans Infant Infant, Newborn Ion Channels / physiology Male Mice Mice, Knockout Mutation Neurodevelopmental Disorders / etiology Phenotype
CLCN acidification gain of function hippocampus intellectual disability neurodevelopmental delay pH sensitivity voltage gated chloride channel

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
05 08 2021
Historique:
received: 15 01 2021
accepted: 02 06 2021
pubmed: 30 6 2021
medline: 31 8 2021
entrez: 29 6 2021
Statut: ppublish

Résumé

The genetic causes of global developmental delay (GDD) and intellectual disability (ID) are diverse and include variants in numerous ion channels and transporters. Loss-of-function variants in all five endosomal/lysosomal members of the CLC family of Cl

Identifiants

DOI: 10.1016/j.ajhg.2021.06.003 PMID: 34186028 PMC: PMC8387284
pubmed: 34186028
pii: S0002-9297(21)00227-5
doi: 10.1016/j.ajhg.2021.06.003
pmc: PMC8387284
pii:
doi:

Substances chimiques

Chloride Channels 0
ClC-3 channel 0
Ion Channels 0

Types de publication

Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1450-1465

Subventions

Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : NICHD NIH HHS
ID : T32 HD098061
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009141
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR068429
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS058721
Pays : United States

Informations de copyright

Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Auteurs

Anna R Duncan (AR)

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.

Maya M Polovitskaya (MM)

Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany; Max-Delbrück-Centrum für Molekulare Medizin (MDC), 13125 Berlin, Germany.

Héctor 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.

Sara Bertelli (S)

Istituto di Biofisica, 16149 Genova, Italy; Scuola Internazionale Superiore di Studi Avanzati (SISSA), 34136 Trieste, Italy.

Grace E 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.

Patricia E 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.

Anne 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, Boston Children's Hospital, MA 02115, USA; Analytic and Translational Genomics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

Zaheer Valivullah (Z)

Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Alysia Kern Lovgren (AK)

Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Elaina M 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.

Emanuele Agolini (E)

Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Jill A 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.

Klaus 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.

Amy Kritzer (A)

Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.

Pamela Hawley (P)

Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA.

Antonio Novelli (A)

Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Paolo Alfieri (P)

Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Giovanna Stefania Colafati (GS)

Oncological Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Dagmar Wieczorek (D)

Institute of Human Genetics, Medical Faculty, Heinrich-Heine University, 40225 Düsseldorf, Germany.

Konrad Platzer (K)

Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.

Johannes Luppe (J)

Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.

Margarete Koch-Hogrebe (M)

Vestische Kinder-und Jugendklinik Datteln, Universität Witten-Herdecke, 45711 Datteln, Germany.

Rami Abou Jamra (R)

Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.

Juanita Neira-Fresneda (J)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Anna 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.

Cornelius F 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.

Kimberly 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.

Lorne 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.
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.

Yvette van Ierland (Y)

Erasmus University Medical Center, Department of Clinical Genetics, 3000 CA Rotterdam, the Netherlands.

Emanuela Argilli (E)

Brain Development Research Program, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.

Elliott H Sherr (EH)

Brain Development Research Program, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.

Andrea Maiorana (A)

Neonatology, Ospedale San Giovanni Calibita Fatebenefratelli, 00186 Roma, Italy.

Thilo Diel (T)

Division of Neonatology and Pediatric Critical Care Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Maja Hempel (M)

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Tatjana Bierhals (T)

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Raúl Estévez (R)

Unitat de Fisiologia, Departament de Ciències Fisiològiques, IDIBELL-Institute of Neurosciences, Universitat de Barcelona-CIBERER, L'Hospitalet de Llobregat, 08907 Barcelona, Spain.

Thomas J 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.

Michael Pusch (M)

Istituto di Biofisica, 16149 Genova, Italy.

Pankaj B 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 02115, USA. Electronic address: pagrawal@enders.tch.harvard.edu.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Eucaryotes › Animaux › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux chlorure › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Unique variants in CLCN3, encoding an...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Unique variants in CLCN3, encoding an...