title: Characterization of a familial case with primary erythromelalgia from Taiwan.
abstract: Familial primary erythromelalgia is a rare autosomal dominant disease characterized by redness and painful episodes of the feet and hands, which is often triggered by heat or exercise. In this report, a Taiwanese family with the characteristic features of erythromelalgia is described. Genetic linkage studies established that the disease locus maps to human chromosome 2. Sequence analysis indicated that the disease segregates with a novel mutation in the alpha subunit of the voltage-gated sodium channel (SCN9A or Na(v)1.7). The change observed is predicted to cause the substitution of a highly conserved isoluecine 136 for a valine within the first segment of the transmembrane domain (D1S1). Using immuno-histochemistry to stain a skin biopsy specimen from the affected region, we demonstrate that there is a significant reduction in the number of small fibers.
authors.affiliation: Department of Neurology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
authors.forename: Ming-Jen
authors.initials: MJ
authors.lastname: Lee
authors.forename: Hsin-Su
authors.initials: HS
authors.lastname: Yu
authors.forename: Sung-Tsang
authors.initials: ST
authors.lastname: Hsieh
authors.forename: Dennis A
authors.initials: DA
authors.lastname: Stephenson
authors.forename: Chien-Jung
authors.initials: CJ
authors.lastname: Lu
authors.forename: Chih-Chao
authors.initials: CC
authors.lastname: Yang
mesh_terms: D000328:Adult; D002889:Chromosomes, Human, Pair 2; D004252:DNA Mutational Analysis; D004916:Erythromelalgia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D005192:Family Health; D008040:Genetic Linkage; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D062556:NAV1.7 Voltage-Gated Sodium Channel; D009412:Nerve Fibers / Q000378:metabolism; D010375:Pedigree; D011506:Proteins / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics; D013624:Taiwan; D014633:Valine / Q000235:genetics
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; D011506:Proteins; C486866:SCN9A protein, human; D015222:Sodium Channels; D007532:Isoleucine; D014633:Valine