[HTML][HTML] SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels

JPH Drenth, RHM te Morsche, G Guillet, A Taieb… - Journal of Investigative …, 2005 - Elsevier
JPH Drenth, RHM te Morsche, G Guillet, A Taieb, RL Kirby, JBMJ Jansen
Journal of Investigative Dermatology, 2005Elsevier
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 α 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 …
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 α 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.
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