SCN9A gene mutation in a primary erythermalgia pedigree

Objective: To detect gene mutations in a Chinese family with primary erythermalgia. Methods: Mutations in SCN9A gene were detected by PCR amplification of the 26 coding exons of SCN9A and sequencing of the PCR products, and compared the sequences in this family with the sequence from gene database. Results: A new mutation was found in this pedigree, and the cytosine in the base number 2572 of this gene was replaced by thymine with the corresponding amino acid leucine replaced by phenylalanine. Conclusions: A new mutation is detected in this family, and new evidence has been found to prove the SCN9A is the responsible gene for primary erythermalgia. Also, this finding is helpful to investigate the mechanism of this disease and provide evidence to treat it.