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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Authors

  • Claire E L Smith Institute of Medical Research, St James’s University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK PubMed articlesGoogle scholar articles
  • Virginie Laugel-Haushalter Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  • Ummey Hany Institute of Medical Research, St James’s University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK PubMed articlesGoogle scholar articles
  • Sunayna Best Institute of Medical Research, St James’s University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK PubMed articlesGoogle scholar articles
  • Rachel L Taylor Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK EMQN CIC, Manchester, UK PubMed articlesGoogle scholar articles
  • James A Poulter Institute of Medical Research, St James’s University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK PubMed articlesGoogle scholar articles
  • Saskia B Wortmann Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Rene G Feichtinger Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria PubMed articlesGoogle scholar articles
  • Johannes A Mayr Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria PubMed articlesGoogle scholar articles
  • Suhaila Al Bahlani Dental & OMFS Clinic, Al Nahdha Hospital, Government of Oman Ministry of Health, Muscat, Oman PubMed articlesGoogle scholar articles
  • Georgios Nikolopoulos Institute for Fundamental Biomedical Research, BSRC Alexander Fleming, Vari, Greece PubMed articlesGoogle scholar articles
  • Alice Rigby Institute of Medical Research, St James’s University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK PubMed articlesGoogle scholar articles
  • Graeme C Black Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Christopher M Watson Institute of Medical Research, St James’s University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK PubMed articlesGoogle scholar articles
  • Sahar Mansour Lymphovascular Research Unit, Molecular and Clinical Sciences Research Institute, St George's Hospital, University of London, London, UK SW Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Chris F Inglehearn Institute of Medical Research, St James’s University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK PubMed articlesGoogle scholar articles
  • Alan J Mighell School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK PubMed articlesGoogle scholar articles
  • Agnès Bloch-Zupan Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network CRANIO, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France PubMed articlesGoogle scholar articles
  • The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium
    Google scholar articles
  1. Correspondence to Dr Claire E L Smith, Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds LS2 9JT, UK; bgycels{at}leeds.ac.uk
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Citation

Smith CEL, Laugel-Haushalter V, Hany U The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, et al
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Journal of Medical Genetics 2024;61:689-698.

Publication history

  • Received November 2, 2023
  • Accepted February 22, 2024
  • First published March 8, 2024.
Online issue publication 
June 20, 2024

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© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.