Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene.

ABSTRACT: The SCN9A gene encodes a voltage gated sodium channel Nav1.7 in which mutations can result in a wide variety of phenotypes ranging from congenital insensitivity to pain to small fiber neuropathy. We report the genotype phenotype analysis in a family carrying a specific mutation, I1739V, in the SCN9A gene. Neurophysiological studies have documented the gain of function impact of this mutation on this sodium channel. Interestingly, there is significant interfamilial phenotypic variability in individuals carrying this mutation. In our family, a father daughter combination had identical genotypes analyzing the SCN9A gene and multiple other genes known to cause neuropathy. Both of them carry the I1739V mutation but exhibit significant phenotypic variability with complaints

SUBMITTER: Peddareddygari LR 

PROVIDER: S-EPMC9251454 | biostudies-literature | 2021 Jan-Apr

REPOSITORIES: biostudies-literature