Channelopathy: A novel mutation in the SCN9A gene causes insensitivity to pain and autonomic dysregulation

摘要

Dear Editor, Channelopathy-associated insensitivity to pain (CAIP) (OMIM 603415) is a rare sensory neuropathy caused by loss-of-function (LOF) mutations of the SCN9A gene, which encodes voltage-gated sodium (Nav1.7) channels. Mutations in SCN9A account for a spectrum of phenotypes ranging from complete lack of nociception with LOF mutations to chronic pain syndromes with gain-of-function (GOF) mutations. Clinical symptoms of CAIP include absent nociception resulting in self-mutilating behaviours, normal cognitive development, and grossly intact autonomic response. Here we report a case of CAIP due to a novel homozygous nonsense mutation in the SCN9A gene (E970X).