A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia, and alacrima

Mutations in the TRAPPC11 gene have been linked to a diverse range of phenotypes including intellectual deficit, muscular dystrophy and movement disorders. Here we report on individuals from two unrelated Turkish families who presented with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. Although several of these symptoms are in common with Triple A syndrome, the remaining symptoms are not. We therefore performed whole exome sequence analysis on these patients and discovered a mutation in TRAPPC11. The gene product TRAPPC11 is involved in the movement of material within the cell and functional analyses revealed a delay in transport along the secretory pathway in patient fibroblast cells. This report expands the clinical phenotype of TRAPPC11 mutations. (By Dr. Katrin Köhler, http://jmg.bmj.com/content/early/2016/10/05/jmedgenet-2016-104108 )