Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Eur J Neurol. 2010 Jun 1;17(6):808-14. doi: 10.1111/j.1468-1331.2009.02931.x. Epub 2010 Jan 12.
Mutations in the voltage-gated Na(V)1.7 Na(+) channel alpha1 gene SCN9A have been linked to pain disorders, such as inherited primary erythromelalgia and paroxysmal extreme pain disorder. Both show clinical overlap with complex regional pain syndrome (CRPS), a condition that is characterized by pain in association with combinations of vasomotor, sudomotor, sensory, and motor disturbances. Therefore, we here investigated the involvement of the SCN9A gene in familial CRPS.
We performed a mutation analysis of the SCN9A gene in four index cases of families with CRPS. All 26 coding exons and adjacent sequences of the SCN9A gene were analyzed for mutations using direct sequencing analysis.
No causal gene mutations were identified in the SCN9A gene in any of the patients.
Despite the fact that the SCN9A gene is an excellent candidate, we did not find evidence that it plays a major role in familial CRPS.
电压门控钠离子通道 Na(V)1.7 基因 SCN9A 的突变与疼痛障碍有关，例如遗传性原发性红斑痛和阵发性剧痛障碍。这两种疾病都与复杂区域疼痛综合征（CRPS）有临床重叠，CRPS 的特征是疼痛伴有血管运动、出汗、感觉和运动障碍的组合。因此，我们在此研究 SCN9A 基因在家族性 CRPS 中的作用。
我们对 CRPS 家族的四个索引病例进行了 SCN9A 基因突变分析。使用直接测序分析对 SCN9A 基因的所有 26 个编码外显子和相邻序列进行突变分析。
在任何患者中均未发现 SCN9A 基因的致病基因突变。
尽管 SCN9A 基因是一个很好的候选基因，但我们没有发现它在家族性 CRPS 中起主要作用的证据。
