Faculty Opinions recommendation of Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

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Abstract
This study is an important confirmation of a recent high-impact paper {1}. Goldberg and co-workers describe nine more families with a clinical phenotype of "congenital indifference to pain" in which mutations in SCN9A, encoding the Nav1.7 sodium channel subunit, were found in the homozygous or compound heterozygous states. These mutations are most likely "loss-of-function" mutations indicating that no Nav1.7 channel is expressed in these patients. This finding further supports the essential role played by the Nav1.7 channel in pain sensation. Reference: {1} Cox et al. Nature 2006, 444:894–898 [PMID:17167479].

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