To date, 34 genes are involved in congenital myasthenic syndromes (CMS), including SLC5A7. The latter encodes CHT1, a protein responsible at the presynaptic level for reuptake of acetylcholine molecules. Canadian researchers report the observation of an 11 year old patient with :
- the clinical picture was one of hypotonia and global developmental delay after the initial period of neonatal respiratory distress,
- two distinct mutations of the SLC5A7 gene (p.I294T and p.D349N) were identified,
- functional studies provided insight into why these mutations were not lethal.
The authors highlight the beneficial effects of anticholinesterase treatment in this patient.