The TRAPPC11 gene encodes a component of a protein complex involved in intracellular trafficking between the Golgi apparatus and the endoplasmic reticulum. Czech researchers have tried to find out more from samples of new patients with a complex genotype:
- three patients presenting with early-onset muscular dystrophy had a particular genotype combining distinct missense variants of the gene and deletions of the same gene spanning several exons,
- central disorders (epilepsy, intellectual deficit) were present in all three cases,
- an alteration in mitochondrial functions was noted on biopsy, but its causal nature could not be confirmed,
- the mechanisms by which the deletions occur were described.
This work will help us to better understand the pathophysiology of this condition, which turns out not to be all that rare, provided that we look for large deletions more systematically.
