Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation

Marion Coolen (1) , Nami Altin (1) , Karthyayani Rajamani (1) , Eva Pereira (1) , Karine Siquier-Pernet , Emilia Puig Lombardi (1) , Nadjeda Moreno (2) , Giulia Barcia (1) , Marianne Yvert (3) , Annie Laquerrière (4) , Aurore Pouliet (1) , Patrick Nitschké (1) , Nathalie Boddaert (1) , Antonio Rausell (1) , Féréchté Razavi (5) , Alexandra Afenjar (6) , Thierry Billette de Villemeur (7) , Almundher Al-Maawali (8) , Khalid Al-Thihli (8) , Julia Baptista (9) , Ana Beleza-Meireles (10) , Catherine Garel (6) , Marine Legendre (11) , Antoinette Gelot (12) , Lydie Burglen (1) , Sébastien Moutton (3) , Vincent Cantagrel (1)

1 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
2 UCL - Great Ormond Street Institute of Child Health
3 MSPB - Maison de Santé Protestante de Bordeaux-Bagatelle
4 UNIROUEN - Université de Rouen Normandie
5 URC, hôpital Necker Enfants Maladies, Paris
6 CHU Trousseau [APHP]
7 SU - Sorbonne Université
8 SQU - Sultan Qaboos University
9 Peninsula Medical School
10 University Hospitals Bristol
11 Hôpital des Enfants - Groupe hospitalier Pellegrin - CHU de Bordeaux
12 INMED - INSERM U1249 - Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université]

Domains: Life Sciences [q-bio]; Neurons and Cognition [q-bio.NC]

Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, et al.. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation. American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩. ⟨hal-03654319⟩