SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels
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DOI：
10.1111/j.0022-202x.2005.23737.x
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发表时间：
2005-06-01
影响因子：
6.5
通讯作者：
Jansen, JBMJ
中科院分区：
文献类型：
--
作者：
Drenth, JPH;te Morsche, RHM;Jansen, JBMJ
原发性红斑性肢痛症是一种罕见的疾病，其特征是反复发作的红色，温暖和疼痛的手，和/或脚。我们以前本地化的基因原发性红斑性肢痛症的染色体2 q上的7.94 cM区域。最近，Yang等人在红斑性肢痛症患者中鉴定了钠通道α亚基SCN 9A的两个错义突变。感觉神经元中电压门控钠通道的存在被认为在几种慢性疼痛性神经病中起关键作用。我们检查了四个不同的家庭和两个散发病例，并检测到SCN 9A的错义序列变异存在于原发性红斑性肢痛症患者。六个突变中有五个位于高度保守的区域。一个常染色体显性遗传性红斑性肢痛症的家庭是两个独立的SCN 9A突变的双杂合子。这些数据确立了原发性红斑性肢痛症是一种神经性疾病，并为治疗这种致残性疼痛性疾病提供了希望。
Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm and painful hands, and/or feet. We previously localized the gene for primary erythermalgia to a 7.94 cM region on chromosome 2q. Recently, Yang et al identified two missense mutations of the sodium channel alpha subunit SCN9A in patients with erythermalgia. The presence of voltage-gated sodium channels in sensory neurons is thought to play a crucial role in several chronic painful neuropathies. We examined four different families and two sporadic cases and detected missense sequence variants in SCN9A to be present in primary erythermalgia patients. A total of five of six mutations were located in highly conserved regions. One family with autosomal dominantly inherited erythermalgia was double heterozygous for two separate SCN9A mutations. These data establish primary erythermalgia as a neuropathic disorder and offers hope for treatment of this incapacitating painful disorder.