Characterization of a familial case with primary erythromelalgia from Taiwan
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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 Nav1.7). 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.
Keywordserythromelalgia SCN9A Nav1.7 skin biopsy
We thank Dr. James Hill for his comments during the preparation of the manuscript. These experiments were supported by a grant (No. NTUH 92A03-5) from the National Taiwan University Hospital. DAS is grateful for finical support of the MRC UK.