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.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Kim HJ, Mohassel P, Donkervoort S et al. Nat Commun. 2022 Apr 28;13(1):2306.