SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
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SourceJournal of Investigative Dermatology, 124, 6, (2005), pp. 1333-1338
Article / Letter to editor
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Journal of Investigative Dermatology
SubjectIGMD 2: Molecular gastro-enterology and hepatology; NCMLS 5: Membrane transport and intracellular motility; UMCN 5.1: Genetic defects of metabolism
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.
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