Investigation of SCN9A Gene Mutation in Primary Erythermalgia_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

ZHANG Long ¹ , WANG Wenhui ² , DONG Guoxiang ¹ , LI Linfeng ² , ZHAO Jun ¹ , SUN Tingting ²

1.Department of Interventional Radiology and Vascular Surgery, Peking University Third Hospital, Beijing 100191, China;;
2.Department of Dermatology, Peking University Third Hospital, Beijing 100191, China;

Corresponding author：

Keywords：

Primary erythermalgia; SCN9A gene; Mutation

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ObjectiveTo identify SCN9A gene mutation in a family with severe primary erythermalgia. MethodsClinical data of family were collected and the encoding exons and their flanking sequences of SCN9A gene were amplified and sequenced from genomic DNA samples. ResultsA heterozygous c.1185C→G was found in exon 9 of the proband, which resulted in N395K amino acid substitution. The mutation was not detected in the proband’s healthy mother or 50 unrelated healthy controls. ConclusionThe missense mutation of SCN9A gene is the underlying cause of the patient’s clinical phenotype.

Citation： ZHANG Long ,WANG Wenhui,DONG Guoxiang,LI Linfeng,ZHAO Jun,SUN Tingting. Investigation of SCN9A Gene Mutation in Primary Erythermalgia. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2011, 18(3): 267-270. doi: Copy

1.	Delye H, Lagae L, Vermylen J, et al. Thalamic stimulation as a treatment for primary erythromelalgia: technical case report [J]. Neurosurgery, 2005, 57(4 Suppl): E404.
2.	Yang Y, Wang Y, Li S, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia [J]. J Med Genet, 2004, 41(3): 171174.
3.	Michiels JJ, te Morsche RH, Jansen JB, et al. Autosomal dominant erythermalgia associated with a novel mutation in the voltagegated sodium channel alpha subunit Nav1.7 [J]. Arch Neurol, 2005, 62(10): 15871590.
4.	Drenth JP, te Morsche RH, Guillet G, et al. SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels [J]. J Invest Dermatol, 2005, 124(6): 13331338.
5.	DibHajj SD, Rush AM, Cummins TR, et al. Gainoffunction mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons [J]. Brain, 2005, 128(Pt 8): 18471854.
6.	Han C, Rush AM, DibHajj SD, et al. Sporadic onset of erythermalgia: a gainoffunction mutation in Nav1.7 [J]. Ann Neurol, 2006, 59(3): 553558.
7.	Harty TP, DibHajj SD, Tyrrell L, et al. Nav1.7 mutant A863P in erythromelalgia: effects of altered activation and steadystate inactivation on excitability of nociceptive dorsal root ganglion neurons [J]. J Neurosci, 2006, 26(48): 1256612575.
8.	Lee MJ, Yu HS, Hsieh ST, et al. Characterization of a familial case with primary erythromelalgia from Taiwan [J]. J Neurol, 2007, 254(2): 210214.
9.	林志淼, 李岩, 张黎黎, 等. 5例原发性红斑肢痛症患者SCN9A基因突变检测 [J]. 临床皮肤科杂志, 2008, 37(8): 506508.
10.	Estacion M, DibHajj SD, Benke PJ, et al. Nav1.7 gainoffunction mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders [J]. J Neurosci, 2008, 28(43): 1107911088.
11.	Burns TM, te Morsche RH, Jansen JB, et al. Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia [J]. Br J Dermatol, 2005, 153(1): 174177.
12.	Drenth JP, te Morsche RH, Mansour S, et al. Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A [J]. Arch Dermatol, 2008, 144(3): 320324.
13.	Drenth JP, Michiels JJ. Erythromelalgia and erythermalgia: diagnostic differentiation [J]. Int J Dermatol, 1994, 33(6): 393397.
14.	Klugbauer N, Lacinova L, Flockerzi V, et al. Structure and functional expression of a new member of the tetrodotoxinsensitive voltageactivated sodium channel family from human neuroendocrine cells [J]. EMBO J, 1995, 14(6): 10841090.
15.	Cox JJ, Reimann F, Nicholas AK, et al. An SCN9A channelopathy causes congenital inability to experience pain [J]. Nature, 2006, 444(7121): 894898.
16.	Finley WH, Lindsey JR Jr, Fine JD, et al. Autosomal dominant erythromelalgia [J]. Am J Med Genet, 1992, 42(3): 310315.
17.	Michiels JJ, Drenth JP, Van Genderen PJ. Classification and diagnosis of erythromelalgia and erythermalgia [J]. Int J Dermatol, 1995, 34(2): 97100.
18.	Naas JE. Secondary Erythromelalgia [J]. J Am Podiatr Med Assoc, 2002, 92(8): 472474.
19.	Eisler T, Hall RP, Kalavar KA, et al. Erythromelalgialike eruption in parkinsonian patients treated with bromocriptine [J]. Neurology, 1981, 31(10): 13681370.
20.	Nanayakkara PW, van der Veldt AA, Simsek S, et al. Verapamilinduced erythermalgia [J]. Neth J Med, 2007, 65(9): 349351.
21.	Sheets PL, Jackson JO 2nd, Waxman SG, et al. A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity [J]. J Physiol, 2007, 581(Pt 3): 10191031.

1. Delye H, Lagae L, Vermylen J, et al. Thalamic stimulation as a treatment for primary erythromelalgia: technical case report [J]. Neurosurgery, 2005, 57(4 Suppl): E404.
2. Yang Y, Wang Y, Li S, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia [J]. J Med Genet, 2004, 41(3): 171174.
3. Michiels JJ, te Morsche RH, Jansen JB, et al. Autosomal dominant erythermalgia associated with a novel mutation in the voltagegated sodium channel alpha subunit Nav1.7 [J]. Arch Neurol, 2005, 62(10): 15871590.
4. Drenth JP, te Morsche RH, Guillet G, et al. SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels [J]. J Invest Dermatol, 2005, 124(6): 13331338.
5. DibHajj SD, Rush AM, Cummins TR, et al. Gainoffunction mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons [J]. Brain, 2005, 128(Pt 8): 18471854.
6. Han C, Rush AM, DibHajj SD, et al. Sporadic onset of erythermalgia: a gainoffunction mutation in Nav1.7 [J]. Ann Neurol, 2006, 59(3): 553558.
7. Harty TP, DibHajj SD, Tyrrell L, et al. Nav1.7 mutant A863P in erythromelalgia: effects of altered activation and steadystate inactivation on excitability of nociceptive dorsal root ganglion neurons [J]. J Neurosci, 2006, 26(48): 1256612575.
8. Lee MJ, Yu HS, Hsieh ST, et al. Characterization of a familial case with primary erythromelalgia from Taiwan [J]. J Neurol, 2007, 254(2): 210214.
9. 林志淼, 李岩, 张黎黎, 等. 5例原发性红斑肢痛症患者SCN9A基因突变检测 [J]. 临床皮肤科杂志, 2008, 37(8): 506508.
10. Estacion M, DibHajj SD, Benke PJ, et al. Nav1.7 gainoffunction mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders [J]. J Neurosci, 2008, 28(43): 1107911088.
11. Burns TM, te Morsche RH, Jansen JB, et al. Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia [J]. Br J Dermatol, 2005, 153(1): 174177.
12. Drenth JP, te Morsche RH, Mansour S, et al. Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A [J]. Arch Dermatol, 2008, 144(3): 320324.
13. Drenth JP, Michiels JJ. Erythromelalgia and erythermalgia: diagnostic differentiation [J]. Int J Dermatol, 1994, 33(6): 393397.
14. Klugbauer N, Lacinova L, Flockerzi V, et al. Structure and functional expression of a new member of the tetrodotoxinsensitive voltageactivated sodium channel family from human neuroendocrine cells [J]. EMBO J, 1995, 14(6): 10841090.
15. Cox JJ, Reimann F, Nicholas AK, et al. An SCN9A channelopathy causes congenital inability to experience pain [J]. Nature, 2006, 444(7121): 894898.
16. Finley WH, Lindsey JR Jr, Fine JD, et al. Autosomal dominant erythromelalgia [J]. Am J Med Genet, 1992, 42(3): 310315.
17. Michiels JJ, Drenth JP, Van Genderen PJ. Classification and diagnosis of erythromelalgia and erythermalgia [J]. Int J Dermatol, 1995, 34(2): 97100.
18. Naas JE. Secondary Erythromelalgia [J]. J Am Podiatr Med Assoc, 2002, 92(8): 472474.
19. Eisler T, Hall RP, Kalavar KA, et al. Erythromelalgialike eruption in parkinsonian patients treated with bromocriptine [J]. Neurology, 1981, 31(10): 13681370.
20. Nanayakkara PW, van der Veldt AA, Simsek S, et al. Verapamilinduced erythermalgia [J]. Neth J Med, 2007, 65(9): 349351.
21. Sheets PL, Jackson JO 2nd, Waxman SG, et al. A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity [J]. J Physiol, 2007, 581(Pt 3): 10191031.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Investigation of SCN9A Gene Mutation in Primary Erythermalgia

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