Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Na_v1.7.

ABSTRACT:

Background

Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated sodium channel Na_v1.7, have previously been reported in subjects with CIP accompanied by anosmia, which are typically transmitted in a recessive pattern. Functional characterisations of some of these SCN9A mutations show that they result in complete loss-of-function of Na_v1.7.

Methods

In a consanguineous family we performed whole exome sequencing of three members who have a diagnosis of CIP and one unaffected family member. The functional effects of the segregating variant in SCN9A were determined using patch clamp electrophysiology i

SUBMITTER: He W 

PROVIDER: S-EPMC6057094 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature