6 results on '"Redon, A."'
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2. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
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Loïc Couloigner, Marc Planes, Chandran Ka, Séverine Audebert‐Bellanger, Sylvia Redon, Caroline Benech, Karen Rouault, Sebastien Küry, Sylviane Peudenier, Sandrine Autret, Isabelle Gourlaouen, Dominique Bonneau, Sylvie Odent, Stéphane Bézieau, Brigitte Gilbert‐Dussardier, Annick Toutain, Anne Boland, Jean‐François Deleuze, Cédric Le Marechal, Gérald Le Gac, Claude Ferec, Kevin Uguen, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut du Thorax [Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Recherche en Génomique Humaine (CNRGH), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Genetics ,Genetics (clinical) - Abstract
International audience
- Published
- 2022
3. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
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Jessica Assoumani, Morgane Plutino, Caroline Benech, Nathalie Marle, Houda Karmous-Benailly, Elise Boudry Labis, Sylvia Redon, Lionel Van Maldergem, Hala Nasser, Nathalie Couque, Myriam Rachid, Anne-Claude Tabet, Bérénice Schell, Aafke Engwerda, Mélanie Rama, Odile Boute, Céline Dupont, Conny M. A. van Ravenswaaij-Arts, Patrick Callier, Lyse Ruaud, Jonathan I. Levy, Paul Kuentz, Alain Verloes, Laurence Faivre, Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), University Medical Center Groningen [Groningen] (UMCG), Centre Hospitalier Universitaire de Nice (CHU Nice), EFS, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Lille, Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Institut de génétique médicale, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre d'Investigation Clinique de Besançon (Inserm CIC 1431), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), This work has been generated within the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]., Clinical Cognitive Neuropsychiatry Research Program (CCNP), PODEUR, Sophie, and Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC)
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Male ,Microcephaly ,[SDV]Life Sciences [q-bio] ,6q16 ,1 microdeletion ,Inheritance Patterns ,EPHA7 ,Haploinsufficiency ,Biology ,speech and language development ,Neurodevelopmental disorder ,Exome Sequencing ,Genetics ,medicine ,Ephrin ,Humans ,Genetic Predisposition to Disease ,microcephaly ,Genetics (clinical) ,Genetic Association Studies ,In Situ Hybridization, Fluorescence ,Comparative Genomic Hybridization ,6q16.1 microdeletion ,Erythropoietin-producing hepatocellular (Eph) receptor ,Receptor, EphA7 ,medicine.disease ,Penetrance ,Phenotype ,neurodevelopmental disorder ,Pedigree ,[SDV] Life Sciences [q-bio] ,Neurodevelopmental Disorders ,intellectual disability ,Mutation ,Chromosomes, Human, Pair 6 ,Female - Abstract
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We report 12 additional patients from nine unrelated pedigrees with similar deletions. The deletions were inherited in nine out of 12 patients, suggesting variable expressivity and incomplete penetrance. Four patients had tiny deletions involving only EPHA7, suggesting a critical role of EPHA7 in a neurodevelopmental disability phenotype. We provide further evidence for EPHA7 deletion as a risk factor for neurodevelopmental disorder and delineate its clinical phenotype.
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- 2021
4. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
- Author
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Lévy, Jonathan, primary, Schell, Bérénice, additional, Nasser, Hala, additional, Rachid, Myriam, additional, Ruaud, Lyse, additional, Couque, Nathalie, additional, Callier, Patrick, additional, Faivre, Laurence, additional, Marle, Nathalie, additional, Engwerda, Aafke, additional, Ravenswaaij‐Arts, Conny M. A., additional, Plutino, Morgane, additional, Karmous‐Benailly, Houda, additional, Benech, Caroline, additional, Redon, Sylvia, additional, Boute, Odile, additional, Boudry Labis, Elise, additional, Rama, Mélanie, additional, Kuentz, Paul, additional, Assoumani, Jessica, additional, Maldergem, Lionel Van, additional, Dupont, Céline, additional, Verloes, Alain, additional, and Tabet, Anne‐Claude, additional
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- 2021
- Full Text
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5. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
- Author
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Couloigner, Loïc, Planes, Marc, Ka, Chandran, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Rouault, Karen, Küry, Sebastien, Peudenier, Sylviane, Autret, Sandrine, Gourlaouen, Isabelle, Bonneau, Dominique, Odent, Sylvie, Bézieau, Stéphane, Gilbert‐Dussardier, Brigitte, Toutain, Annick, Boland, Anne, Deleuze, Jean‐François, Le Marechal, Cédric, and Le Gac, Gérald
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LITERATURE reviews ,MEDICAL genetics ,SYNDROMES ,STOP codons - Published
- 2023
- Full Text
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6. Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly.
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Uguen, Kévin, Krysiak, Kilannin, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Viora‐Dupont, Eléonore, Tran Mau‐Them, Frederic, Rondeau, Sophie, Elsharkawi, Ibrahim, Granadillo, Jorge L., Neidich, Julie, Soares, Celia Azevedo, Tkachenko, Natáliya, M. Amudhavalli, Shivarajan, Engleman, Kendra, Boland, Anne, Deleuze, Jean‐François, Bezieau, Stéphane, Odent, Sylvie, and Toutain, Annick
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DEVELOPMENTAL delay ,MICROCEPHALY ,GENETIC variation ,LANGUAGE delay ,PHENOTYPES ,FRAGILE X syndrome ,22Q11 deletion syndrome - Abstract
13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence‐level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss‐of‐function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 microdeletion syndrome cases. Common features included developmental delay, language delay, microcephaly, obesity and dysmorphic features. In silico analyses suggest that HMGB1 is likely to be intolerant to loss‐of‐function, and previous in vitro data are in line with the role of HMGB1 in neurodevelopment. These results strongly suggest that haploinsufficiency of the HMGB1 gene may play a critical role in the pathogenesis of the 13q12.3 microdeletion syndrome. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
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