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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Authors

  • Tristan Celse Universite Grenoble Alpes, Saint-Martin-d'Heres, France Genetics Epigenetics and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Grenoble, France Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France PubMed articlesGoogle scholar articles
  • Angèle Tingaud-Sequeira Univ. Bordeaux, Maladies Rares : Génétique et Métabolisme (MRGM), INSERM U1211, Bordeaux, France PubMed articlesGoogle scholar articles
  • Klaus Dieterich Universite Grenoble Alpes, Saint-Martin-d'Heres, France Inserm, U1216, GIN, Grenoble, France PubMed articlesGoogle scholar articles
  • Geraldine Siegfried Xenofish Platform U1312 – BRIC, Inserm, Univ. Bordeaux, Bordeaux, France PubMed articlesGoogle scholar articles
  • Cédric Lecaignec Génétique médicale, Institut Fédératif de Biologie (IFB), CHU de Toulouse - Hôpital Purpan, Toulouse, France Toulouse NeuroImaging Center, Inserm, UPS, Université de Toulouse, Toulouse, France PubMed articlesGoogle scholar articles
  • Laurence Bouneau Génétique médicale, Institut Fédératif de Biologie (IFB), CHU de Toulouse - Hôpital Purpan, Toulouse, France PubMed articlesGoogle scholar articles
  • Madeleine Fannemel Department of Medical Genetics, Oslo University Hospital, Oslo, Norway PubMed articlesGoogle scholar articles
  • Gaelle Salaun Cytogénétique Médicale, CHU Estaing, Clermont-Ferrand, France Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont-Ferrand, France PubMed articlesGoogle scholar articles
  • Fanny Laffargue Cytogénétique Médicale, CHU Estaing, Clermont-Ferrand, France PubMed articlesGoogle scholar articles
  • Guillaume Martinez Universite Grenoble Alpes, Saint-Martin-d'Heres, France Genetics Epigenetics and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Grenoble, France Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France PubMed articlesGoogle scholar articles
  • Véronique Satre Universite Grenoble Alpes, Saint-Martin-d'Heres, France Genetics Epigenetics and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Grenoble, France Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France PubMed articlesGoogle scholar articles
  • Gaelle Vieville Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France PubMed articlesGoogle scholar articles
  • Marie Bidart Universite Grenoble Alpes, Saint-Martin-d'Heres, France Genetics Epigenetics and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Grenoble, France CHU Grenoble Alpes, Laboratoire de Génétique Moléculaire: Maladies Héréditaires et Oncologie, Grenoble, France PubMed articlesGoogle scholar articles
  • Cecilia Soussi Zander Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Ann-Charlotte Turesson Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Miranda Splitt Northern Genetics Service, Institute of Genetic Medicine, Newcastle, UK PubMed articlesGoogle scholar articles
  • Dorothee Reboul Hôpital Carémeau, CHU Nîmes, Laboratoire de Cytologie Clinique et Cytogénétique, Nimes, France PubMed articlesGoogle scholar articles
  • Jean Chiesa UF de Génétique Médicale et Cytogénétique, Centre Hospitalier Régional Universitaire de Nîmes, Nimes, France Faculté de Médecine Montpellier-Nîmes, Laboratoire d'Histologie-Embryologie-Cytogénétique, Institut des Biomolécules Max Mousseron (IBMM), CNRS UMR5247, Nimes, France PubMed articlesGoogle scholar articles
  • Philippe Khau Van Kien UF de Génétique Médicale et Cytogénétique, Centre Hospitalier Régional Universitaire de Nîmes, Nimes, France Faculté de Médecine Montpellier-Nîmes, Laboratoire d'Histologie-Embryologie-Cytogénétique, Institut des Biomolécules Max Mousseron (IBMM), CNRS UMR5247, Nimes, France PubMed articlesGoogle scholar articles
  • Manon Godin Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Developmental Anomalies and Malformation Syndromes, Caen, France PubMed articlesGoogle scholar articles
  • Nicolas Gruchy Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Developmental Anomalies and Malformation Syndromes, Caen, France PubMed articlesGoogle scholar articles
  • Himanshu Goel Hunter Genetics, Waratah, New South Wales, Australia University of Newcastle, Callaghan, NSW 2308, Australia PubMed articlesGoogle scholar articles
  • Elizabeth Palmer Centre for Clinical Genetics, Sydney Children's Hospitals Network Randwick, Randwick, NSW 2031, Australia School of Clinical Medicine, Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, NSW 2031, Australia PubMed articlesGoogle scholar articles
  • Kalliope Demetriou Centre for Clinical Genetics, Sydney Children's Hospitals Network Randwick, Randwick, NSW 2031, Australia PubMed articlesGoogle scholar articles
  • Carolyn Shalhoub Centre for Clinical Genetics, Sydney Children's Hospitals Network Randwick, Randwick, NSW 2031, Australia School of Clinical Medicine, Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, NSW 2031, Australia PubMed articlesGoogle scholar articles
  • Caroline Rooryck Univ. Bordeaux, Maladies Rares : Génétique et Métabolisme (MRGM), INSERM U1211, Bordeaux, France 21 CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France PubMed articlesGoogle scholar articles
  • Charles Coutton Universite Grenoble Alpes, Saint-Martin-d'Heres, France Genetics Epigenetics and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Grenoble, France Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Charles Coutton, Génétique et Procréation, Université Grenoble Alpes, Saint-Martin-d'Heres, France; CCoutton{at}chu-grenoble.fr
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Citation

Celse T, Tingaud-Sequeira A, Dieterich K, et al
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
Journal of Medical Genetics 2023;60:620-626.

Publication history

  • Received July 4, 2022
  • Accepted October 14, 2022
  • First published November 11, 2022.
Online issue publication 
May 22, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.