Jorge Diaz, Xavier Gérard, Michel-Boris Emerit, Julie Areias, David Geny, Julie Dégardin, Manuel Simonutti, Marie-Justine Guerquin, Thibault Collin, Cécile Viollet, Jean-Marie Billard, Christine Métin, Laurence Hubert, Farzaneh Larti, Kimia Kahrizi, Rebekah Jobling, Emanuele Agolini, Ranad Shaheen, Alban Zigler, Virginie Rouiller-Fabre, Jean-Michel Rozet, Serge Picaud, Antonio Novelli, Seham Alameer, Hossein Najmabadi, Ronald Cohn, Arnold Munnich, Magalie Barth, Licia Lugli, Fowzan S Alkuraya, Susan Blaser, Maha Gashlan, Claude Besmond, Michèle Darmon, Justine Masson
Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy...
October 1, 2020: Brain