Department of Neurology, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
J Neurol Sci. 2011 Feb 15;301(1-2):90-2. doi: 10.1016/j.jns.2010.10.006. Epub 2010 Nov 20.
Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP). These phenotypes are characterized by episodic extreme localized pain with cutaneous autonomic signs. So far, no other phenotypes have been associated with mutation in the SCN9A gene.
To investigate mutations in the SCN9A gene in patients with chronic non-paroxysmal neuropathic pain.
9 patients with chronic severe unexplained neuropathic pain.
Of the nine patients one had predicted pathologic mutations in the SCN9A gene. This patient had a heterozygous change of n.4648 T-C in exon 27 resulting in a substitution of W1550R, a highly conserved amino acid, predicting damage in the transmembrane S2 region, repeat IV. This mutation was not found in 50 controls.
SCN9A mutations cause pain syndromes other than IEM and PEPD. These mutations should be considered in patients with resistant unexplained chronic neuropathic pain.
SCN9A 基因（编码电压门控钠离子通道 NaV1.7）的功能获得性突变导致两种罕见的阵发性疼痛障碍：遗传性红斑性肢痛症（IEM）和阵发性剧痛障碍（PEDP）。这些表型的特征是阵发性极度局限性疼痛伴皮肤自主征象。到目前为止，尚未发现 SCN9A 基因突变与其他表型相关。
研究 SCN9A 基因突变与慢性非阵发性神经性疼痛患者之间的关系。
9 例慢性严重不明原因神经性疼痛患者。
9 例患者中有 1 例 SCN9A 基因预测病理性突变。该患者在第 27 外显子存在 n.4648 T-C 杂合性改变，导致 W1550R 取代，这是一个高度保守的氨基酸，预测跨膜 S2 区重复 IV 中的损伤。该突变在 50 名对照中未发现。
SCN9A 基因突变可引起除 IEM 和 PEPD 以外的疼痛综合征。在对不明原因的慢性神经性疼痛耐药的患者中，应考虑这些突变。
