HNRNPA2B1 belongs to a group of RNA-binding proteins (RBPs) whose pathological variants cause various disorders, in particular neuromuscular (SLA, distal myopathy or other).
- An international consortium has found it to be involved in a new form of neuromuscular disease!
- Ten families (two are French) carried missense variants of the HNRNPA2B1 gene coding for this protein.
- The clinical picture was partly similar to oculo-pharyngeal muscular dystrophy (OPMD) but with a much earlier onset.
The functional study of these variants showed the involvement of HNRNPA2B1 in the regulation of protein transport between the nucleus and the cytoplasm.