Na_V channel variants in patients with painful and nonpainful peripheral neuropathy.

ABSTRACT:

Objective

To examine the incidence of nonsynonymous missense variants in SCN9A (Na_V1.7), SCN10A (Na_V1.8), and SCN11A (Na_V1.9) in patients with painful and nonpainful peripheral neuropathy.

Methods

Next-generation sequencing was performed on 457 patient DNA samples provided by the Peripheral Neuropathy Research Registry (PNRR). The patient diagnosis was as follows: 278 idiopathic peripheral neuropathy (67% painful and 33% nonpainful) and 179 diabetic distal polyneuropathy (77% painful and 23% nonpainful).

Results

We identified 36 (SCN9A), 31 (SCN10A), and 15 (SCN11A) nonsynonymous missense variants, with 47.7% of patients carrying a low-frequency (minor allele frequency <5%) missense variant in

SUBMITTER: Wadhawan S 

PROVIDER: S-EPMC5732007 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature