ArticleAmerican journal of human genetics2022
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
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Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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30 citing papers in PubMed, 42 citations in OpenAlex.
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Authors and funding
40 authors at 13 institutions in 8 countries.
Antonio VitobelloInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.fr.
Benoit MazelInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.
Vera G LelianovaMedway School of Pharmacy, University of Kent, Anson Building, Central Avenue, Chatham ME4 4TB, UK; Department of Life Sciences, Imperial College London, London, UK.
Alice ZangrandiDepartment of Life Sciences, Imperial College London, London, UK.
Evelina PetittoMedway School of Pharmacy, University of Kent, Anson Building, Central Avenue, Chatham ME4 4TB, UK.
Jason SucklingDepartment of Life Sciences, Imperial College London, London, UK.
Vincenzo SalpietroDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Robert MeyerInstitute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany.
Miriam ElbrachtInstitute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany.
Ingo KurthInstitute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany.
Thomas EggermannInstitute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany.
Ouafa BenlaouerMedway School of Pharmacy, University of Kent, Anson Building, Central Avenue, Chatham ME4 4TB, UK.
Gurprit LallMedway School of Pharmacy, University of Kent, Anson Building, Central Avenue, Chatham ME4 4TB, UK.
Alexander G TonevitskyFaculty of Biology and Biotechnology, HSE University, Moscow, Russia; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry RAS, 117997, Moscow, Russia.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Katie M ChanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Sophie NambotInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.
Hana SafraouInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Ange-Line BruelInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Anne-Sophie Denommé-PichonInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Frédéric Tran Mau-ThemInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Christophe PhilippeInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Yannis DuffourdInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Hui GuoCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Andrea K PetersenRandall Children's Hospital, Portland, OR, USA.
Leslie GrangerRandall Children's Hospital, Portland, OR, USA.
Amy CrunkGeneDx, Inc., Gaithersburg, MD, USA.
Allan BayatDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Federico ZaraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCSS Istituto Giannina Gastini, Genoa, Italy.
Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Quentin ThomasInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Déficiences Intellectuelles de causes rares, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.
Andrée DelahayeUF médecine génomique et génétique clinique, Hôpital Jean Verdier, Hôpitaux Universitaires de Paris Seine Saint Denis, AP-HP, Bondy, France; UFR de Santé Médecine et Biologie humaine, Université Sorbonne Paris Nord, Bodigny, France; NeuroDiderot UMR 1141, Inserm, FHU I2-D2, Université de Paris, Paris, France.
Jean-Madeleine de Sainte AgatheDépartement de Génétique Médicale, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris, France.
Julien BurattiDépartement de Génétique Médicale, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris, France.
Serguei V KozlovCenter for Advanced Preclinical Research, National Cancer Institute, Frederick, MD, USA.
Laurence FaivreInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.
Christel Thauvin-RobinetInserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne - Université de Bourgogne, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Déficiences Intellectuelles de causes rares, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.
Yuri UshkaryovMedway School of Pharmacy, University of Kent, Anson Building, Central Avenue, Chatham ME4 4TB, UK; Department of Life Sciences, Imperial College London, London, UK; Faculty of Biology and Biotechnology, HSE University, Moscow, Russia. Electronic address: y.ushkaryov@kent.ac.uk.
Inserm · FRMedway School of Pharmacy · GBRWTH Aachen University · DEBaylor College of Medicine · USIstituto Giannina Gaslini · ITImperial College London · GBNational Research University Higher School of Economics · RURandall Children's Hospital at Legacy Emanuel · USSorbonne Université · FRCentral South University · CNFrederick National Laboratory for Cancer Research · USUniversity of Genoa · ITUniversity of Southern Denmark · DK
Funding
Biotechnology and Biological Sciences Research Council BBD523078Biotechnology and Biological Sciences Research Council BBF0083091Wellcome TrustWellcome Trust GR074359MAWellcome Trust WT083199MF
Abstract
ADGRL1 (latrophilin 1), a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation, and activity. However, the role of ADGRL1 in human disease has been elusive. Here, we describe ten individuals with variable neurodevelopmental features including developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy, all heterozygous for variants in ADGRL1. In vitro, human ADGRL1 variants expressed in neuroblastoma cells showed faulty ligand-induced regulation of intracellular Ca
Indexed as
Autism Spectrum DisorderIntellectual DisabilityNeurodevelopmental DisordersReceptors, G-Protein-CoupledReceptors, PeptideAdultAnimalsDisease Models, AnimalHaploinsufficiencyHumansMiceMice, KnockoutADGRL1 protein, humanAdgrl1 protein, mouseReceptors, G-Protein-CoupledReceptors, PeptideADGRL1Adgrl1 knockout miceADHDASDattention deficit hyperactivity disorderautism spectrum disorderdevelopmental delayepilepsyintellectual disabilitymalfunctional behavior in miceneuropsychiatric disordersvariable expressivity
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