Primary erythermalgia as a sodium channelopathy. Screening for SCN9A mutations: Exclusion of a causal role of SCN10A and SCN11A

Archives of Dermatology

Volumn 144, Issue 3, 2008, Pages 320-324

  Drenth, Joost P H ^a   Te Morsche, Rene H M ^a   Mansour, Sahar ^b   Mortimer, Peter S ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ERYTHROMELALGIA; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; PRIORITY JOURNAL; QUESTIONNAIRE; SODIUM CHANNELOPATHY;

ADOLESCENT; ADULT; DNA; ERYTHROMELALGIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NETHERLANDS; NEUROPEPTIDES; PEDIGREE; POLYMERASE CHAIN REACTION; SODIUM CHANNELS;

EID: 41149172710     PISSN: 0003987X     EISSN: 0003987X     Source Type: Journal    
DOI: 10.1001/archderm.144.3.320     Document Type: Article

References (24)

1. Drenth JP, Michiels JJ. Three types of erythromelalgia [editorial]. BMJ. 1990;301(6750):454-455.
2. van Genderen PJ, Michiels JJ, Drenth JP. Hereditary erythermalgia and acquired erythromelalgia. Am J Med Genet. 1993;45(4):530-532.
3. Drenth JP, Finley WH, Breedveld GJ, et al. The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32. Am J Hum Genet. 2001;68(5):1277-1282.
4. Yang Y, Wang Y, Li S, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet. 2004;41(3):171-174.
5. Drenth JP, te Morsche RH, Guillet G, Taieb A, Kirby RL, Jansen JB. SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J Invest Dermatol. 2005;124(6):1333-1338.
6. Yu FH, Catterall WA. Overview of the voltage-gated sodium channel family. Genome Biol. 2003;4(3):207.
7. Lai J, Porreca F, Hunter JC, Gold MS. Voltage-gated sodium channels and hyperalgesia. Annu Rev Pharmacol Toxicol. 2004;44:371-397.
8. Choi JS, Dib-Hajj SD, Waxman SG. Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. Neurology. 2006;67(9):1563-1567.
9. Burns TM, te Morsche RH, Jansen JB, Drenth JP. Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia. Br J Dermatol. 2005;153(1):174-177.
10. Drenth JP, Michiels JJ. Erythromelalgia and erythermalgia: diagnostic differentiation. Int J Dermatol. 1994;33(6):393-397.
11. Zhang LL, Lin ZM, Ma ZH, Xu Z, Yang YL, Yang Y. Mutation hotspots of SCN9A in primary erythermalgia. Br J Dermatol. 2007;156(4):767-769.
12. v1.7. Ann Neurol. 2006;59(3):553-558.
13. v1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. 2005;128(Pt 8):1847-1854.
14. v1.7. Arch Neurol. 2005;62(10):1587-1590.
15. Lee MJ, Yu HS, Hsieh ST, Stephenson DA, Lu CJ, Yang CC. Characterization of a familial case with primary erythromelalgia from Taiwan. J Neurol. 2007;254(2):210-214.
16. v1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons. J Neurosci. 2006;26(48):12566-12575.
17. Akopian AN, Souslova V, England S, et al. The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways. Nat Neurosci. 1999;2(6):541-548.
18. + current in nociceptors. Proc Natl Acad Sci U S A. 1996;93(3):1108-1112.
19. Drenth JP, Vuzevski V, Van Joost T, Casteels-Van DM, Vermylen J, Michiels JJ. Cutaneous pathology in primary erythermalgia. Am J Dermatopathol. 1996;18(1):30-34.
20. Fertleman CR, Baker MD, Parker KA, et al. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 2006;52(5):767-774.
21. Cox JJ, Reimann F, Nicholas AK, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 2006;444(7121):894-898.
22. Cummins TR, Dib-Hajj SD, Waxman SG. Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. J Neurosci. 2004;24(38):8232-8236.
23. Waxman SG, Dib-Hajj S. Erythermalgia: molecular basis for an inherited pain syndrome. Trends Mol Med. 2005;11(12):555-562.
24. Davis MD, Genebriera J, Sandroni P, Fealey RD. Thermoregulatory sweat testing in patients with erythromelalgia. Arch Dermatol. 2006;142(12):1583-1588.