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  1. An Unorthodox Disease Mechanism

An Unorthodox Disease Mechanism

Elena Perenthaler, MSc 1 Anita Nikoncuk 1 Soheil Yousefi, Ph.D 1 Woutje M Berdowski 1 Maysoon Alsagob, MSc 2 Ivan Capo 3 Herma C. van der Linde 1 Paul van den Berg 1 Edwin H. Jacobs 1 Darija Putar 1 Mehrnaz Ghazvini, PhD 1 Eleonora Aronica, MD, PhD 4 Wilfred Van IJcken, Dr ir 1 Walter G. de Valk 1 Evita Medici-van den Herik 1 Marjon van Slegtenhorst 1 Lauren Brick 5 Mariya Kozenko 5 Jennefer N. Kohler 6 Jonathan Bernstein, MD 6 Kristin G Monaghan 7 Amber Begtrup 7 Rebecca I. Torene 7 Amna Al Futaisi, MD, FRCPC, FRCPCH 8 Fathiya Al Murshedi 8 Renjith Mani 8 Faisal Al Azri 8 Erik-Jan Kamsteeg 9 Majid Mojarrad 10 Atieh Eslahi 10 Zaynab Khazaei 11 Fateme Massinaei Darmiyan 12 Mohammad Doosti, PhD 13 Ehsan Ghayoor Karimiani, MD MRes PhD 14, 15 Jana Vandrovcova 16 Faisal Zafar 17 Nuzhat Rana 17 Krishna Kumar Kandaswamy, PhD 18 Jozef Hertecant 19 Dr. Peter Bauer, MD 18 Mohammed A. AlMuhaizea 2 Mustafa Salih, MD, Dr Med Sci, FRCPCH, FAAN 20 Mazhor Aldosary 2 Rawan Mohammedomar Almass 2 Laila Al-Quait 2 Wafa Qubbaj 2 Serdar Coskun 2 Khaled O. Alahmadi 2 Muddathir H. A. Hamad 20 Salem Alwadaee 2 Khalid Awartani 2 Anas M. Dababo 2 Futwan Almohanna 2 Dilek Colak 2 Mohammadreza Dehghani, MD, PhD 21 Mohammad Yahya Vahidi Mehrjardi 21 Murat Gunel 22 Ad Gulhan Ercan-Sencicek, PhD 22, 23 Gouri Rao Passi 24 Huma Arshad Cheema 17 Stephanie Efthymiou, BSc MSc PhD 16 Henry Houlden, MD PhD 16 Aida M. Bertoli-Avella, MD 18 Alice S Brooks 1 Kyle Retterer 7 Reza Maroofian, PhD 16 Namik Kaya, MSc, PhD 1 Tjakko J Van Ham 1 Tahsin Stefan Barakat, PhD, MD 1
1 Erasmus Medical Center Rotterdam 2 King Faisal Specialist Hospital and Research Centre 3 University of Novi Sad 4 University of Amsterdam 5 McMaster University Children's Hospital Hamilton 6 Stanford University School of Medicine 7 GeneDx 8 Sultan Qaboos University Hospital 9 Radboud University Medical Centre Nijmegen 10 Mashhad University 11 Genetic Center of Khorasan Razavi 12 Welfare Organization of Sistan and Baluchestan 13 Next Generation Genetic Polyclinic 14 St. George's University Hospitals NHS Foundation Trust, London, UK 15 Islamic Azad University 16 UCL Queen Square Institute of Neurology 17 The Children Hospital and Institute of Child Health Lahore 18 CENTOGENE AG 19 Tawam Hospital Al Ain 20 King Saud bin Abdulaziz University for Health Sciences Riyadh 21 Shahid Sadoughi University of Medical Sciences 22 Yale University 23 Masonic Medical Research Institute 24 Choithram Hospital and Research Centre
December 09, 2019

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.