Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

1 Reference Centre for Inherited Metabolic Disorders (MaMEA), Université Paris Descartes, Paris, France 2 INSERM U781, Université Paris Descartes, Paris, France 3 Paediatric Neurology, Armand Trousseau Hospital and UPMC Univ Paris 06, Paris, France 4 INSERM, U1016 and Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, France 5 Paediatric Department, Antoine-Beclère Hospital, Clamart and Paris Sud University, 92140 Clamart, France 6 Radiology Department, Antoine-Beclère Hospital, Clamart and Paris Sud University, 92140 Clamart, France 7 Paediatric Radiology, Necker-Enfants Malades Hospital and Paris Descartes University, 75015 Paris, France 8 Genetics Department, Université Paris Descartes, 75015 Paris, France 9 CHU de Bordeaux, Université de Bordeaux, Reference Centre for Congenital Malformation Syndromes, 33000 Bordeaux, France 10 Paediatric Neurology, Université Paris Descartes, 75015 Paris, France 11 Reference Centre for Cerebellar Malformations and Congenital Disorders, Armand Trousseau Hospital and UPMC Univ Paris 06, Paris, France 12 AP-HP, Genetics Department, Armand Trousseau Hospital and UPMC Univ Paris 06, Paris, France