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  1. Novel Genetic Cause for Neurodevelopmental Defects

Novel Genetic Cause for Neurodevelopmental Defects

Laura V. Vandervore 1, 2, 3 Rachel Schot 1 Chiara Milanese, PHD 1 Daphne J. Smits 1 Esmee Kasteleijn 1 Andrew E. Fry 4, 5 Daniela T. Pilz 6 Stefanie Brock 2, 3 Esra Börklü-Yücel 1, 7 Marco Post 1 Nadia Bahi-Buisson, MD PhD 8 María José Sánchez-Soler 9 Marjon van Slegtenhorst 1 Boris Keren, PhD, MD 10 Alexandra Afenjar 11 Stephanie A. Coury 12 Wen-Hann Tan, MD 12, 13 Renske Oegema, MD 14 Linda S. de Vries 14 Katherine A. Fawcett 15, 16 Peter G J Nikkels, Dr. 14 Aida M. Bertoli-Avella, MD 17 Amal Al Hashem 18 Abdulmalik A. Alwabel 18 Kalthoum Tlili-Graiess 18 Stephanie Efthymiou, BSc MSc PhD 19 Faisal Zafar 20 Nuzhat Rana 20 Farah Bibi 21 Henry Houlden, MD PhD 19 Reza Maroofian, PhD 19 Richard Person 22 Amy Crunk 22 Juliann M. Savatt 23 Lisbeth Turner 23 Mohammad Doosti, PhD 24 Ehsan Ghayoor Karimiani, MD MRes PhD 25, 26 Nebal Waill Saadi 27 Javad Akhondian 28 Maarten H. Lequin 14 Hülya Kayserili 7 Peter J. Van der Spek, Prof. Dr. Ing. 1 Anna C. Jansen 2, 3 Johan M. Kros 1 Robert Verdijk, MD PhD 1 Nataša Jovanov-Milošević, PhD Associate Professor 29 Maarten Fornerod 1 Pier Giorgio Mastroberardino 1, 30 Grazia M. S. Mancini 1
1 Erasmus Medical Center Rotterdam 2 Vrije Universiteit Brussel 3 Universitair Ziekenhuis Brussel 4 University Hospital of Wales 5 Cardiff University 6 Queen Elizabeth University Hospital, Glasgow 7 Koç University School of Medicine 8 Paris Descartes University 9 Hospital Clínico Universitario Virgen de la Arrixaca, Murcia 10 Pitié-Salpêtrière Hospital Paris 11 Sorbonne University Paris 12 Boston Children's Hospital 13 Harvard Medical School Boston 14 Utrecht University Medical Center 15 John Radcliffe Hospital 16 De Montfort University, Leicester 17 CENTOGENE AG 18 Prince Sultan Military Medical City Riyadh 19 University College London 20 The Children Hospital and Institute of Child Health Lahore 21 PMAS - Arid Agriculture University 22 GeneDx 23 The Autism & Developmental Medicine Institute at Geisinger 24 Next Generation Genetic Polyclinic 25 St. George's University Hospitals NHS Foundation Trust, London, UK 26 Islamic Azdad University 27 Baghdad University 28 Mashhad University 29 University of Zagreb 30 University of L'Aquila
November 12, 2019

TMX2 is a Crucial Regulator of Cellular Redox State, and its Dysfunction Causes Severe Brain Developmental Abnormalities

Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.