Mutations of SCN9A gene in five patients with primary erythermalgia

Objective: To determine SCN9A gene mutations in five cases of primary erythermalgia. Methods: DNA samples were extracted from five patients with primary erythermalgia, their clinical data were collected as well. Twenty-six coding exons and its flanking sequences of the SCN9A gene were amplified by PCR and DNA sequencing was followed. Results: Five different mutations of SCN9A gene were found in the five cases, including four novel mutations (L823R, Q10R, V872G and S211P) and one previously reported mutation (I848T). The mutations were not detected in fifty normal controls. Conclusion: L823R, Q10R, V872G, S211P and I848T may be the causes of the clinical phenotype in these five cases.