Article
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
Journal of medical genetics - 1 Oct 2023
Abaji Mario, Mignon-Ravix Cécile, Gorokhova Svetlana, Cacciagli Pierre, Mortreux Jérémie, Molinari Florence, Chabrol Brigitte, Sigaudy Sabine, Villard Laurent, Riccardi Florence
Abstract excerpt
The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved in ultra-rare human diseases, called TRAPPopathies. Seven of them are autosomal recessive neurodevelopmental disorders with overlapping phenotypes....
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