Laura Vandervore 1 , 2 , Katrien Stouffs 1 , 2 , Ibrahim Tanyalçin 1 , 2 , Tim Vanderhasselt 3 , Filip Roelens 4 , Muriel Holder-Espinasse 5 , Agnete Jørgensen 6 , Melanie G Pepin 7 , Florence Petit 8 , Philippe Khau Van Kien 9 , Nadia Bahi-Buisson 10 , Willy Lissens 1 , 2 , Alexander Gheldof 1 , 2 , Peter H Byers 7 , 11 , Anna C Jansen 1 , 12
Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. This report shows that bi-allelic mutations in COL3A1 are associated with a similar phenotype.