Genetic analysis in hereditary sensory and autonomic neuropathies

Takeaway

  • Several forms of variants responsible for congenital insensitivity to pain with anhidrosis/ congenital insensitivity to pain (CIPA/CIP) in Chinese population were identified by in vitro analysis, including five missense variants that compromise tropomyosin receptor kinase A (TrkA) receptor phosphorylation.

  • Findings suggested that synonymous variant in NTRK1 and gross deletion of SCN9A correlated with the pathogenesis of CIPA and CIP, respectively.

Why this matters

    These findings provide new insights and a potential novel pathogenic mechanism of these hereditary sensory and autonomic neuropathies CIPA and also suggest an association between the gross deletion of SCN9A and CIP, which may derive from a loss-of-function mechanism.