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
November 12, 2019
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
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.