Key result
Two novel mutations in the SCN9A gene coding for the Nav1.7 channel were identified in a woman with congenital insensitivity to pain and anosmia.
Case Report (n=1)
Reports two novel SCN9A mutations causing loss of function of the Nav1.7 channel, leading to congenital insensitivity to pain and anosmia.
This is the authors' abstract. We don't add key points for this paper.
The sensation of pain is important and there may be serious consequences if it is missing. Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable name for this condition. Different mutations in the SCN9A gene causing loss of function of the voltage-gated sodium channel Nav1.7 have been reported in patients with this rare disease. Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel. We also discuss the finding of anosmia which apparently is a common feature in these patients.
Does not alter clinical management; extends SCN9A loss-of-function spectrum in a single CIP case.
No takes yet. Share an insight, caveat, or question.
Nilsen et al. (2009) conducted a case report in Insensitivity to pain (n=1). Two novel SCN9A mutations was evaluated. Two novel mutations in the SCN9A gene coding for the Nav1.7 channel were identified in a woman with congenital insensitivity to pain and anosmia.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: