Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.

ABSTRACT:

Objective

Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia.

Methods

We sequenced all exons of SCN9A in 19 clinically well-studied cases including 6 CIP and 13 erythromelalgia (9 with family history, 10 with small-fibre neuropathy). The identified variants were assessed in dbSNP135, 1K genome, NHLBI-Exome Sequencing Project (5400-exomes) databases, and 768 normal chromosomes.

Results

In erythromelalgia case 7, we identified a novel Q10>K mutation. In CIP case 6, we identifi

SUBMITTER: Klein CJ 

PROVIDER: S-EPMC3594382 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature