Des mutations dans l’exon HSN2 du gène WNK1 causent la neuropathie héréditaire sensitive et autonomique de type 2

Jean-Baptiste Rivière; Patrick Dion; Masoud Shekarabi; Nathalie Girard; Laurence Faivre; Ronald G. Lafrenière; Mark Samuels; Guy A. Rouleau

doi:10.1051/medsci/2009253235

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Volume 25 / Numéro 3 (Mars 2009)

Med Sci (Paris), 25 3 (2009) 235-238

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Numéro		Med Sci (Paris) Volume 25, Numéro 3, Mars 2009


Page(s)		235 - 238
Section		Nouvelles
DOI		https://doi.org/10.1051/medsci/2009253235
Publié en ligne		15 mars 2009

Roddier K, Thomas T, Marleau G, et al. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology 2005; 64 : 1762–7. [Google Scholar]
Ota M, Ellefson RD, Lambert EH, Dyck PJ.Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. Arch Neurol 1973; 29 : 23–37. [Google Scholar]
Lafrenière RG, MacDonald ML, Dube MP, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004; 74 : 1064–73. [Google Scholar]
Wilson FH, Disse-Nicodème S, Choate KA, et al. Human hypertension caused by mutations in WNK kinases. Science 2001; 293 : 1107–12. [Google Scholar]
Sun X, Gao L, Yu RK, Zeng G. Downregulation of WNK1 protein kinase in neural progenitor cells suppresses cell proliferation and migration. J Neurochem 2006; 99 : 1114–21. [Google Scholar]
Delaloy C, Hadchouel J, Imbert-Teboul M,et al. Cardiovascular expression of the mouse WNK1 gene during development and adulthood revealed by a BAC reporter assay. Am J Pathol 2006; 169 : 105–18. [Google Scholar]
Shekarabi M, Girard N, Rivière JB,et al. Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 2008; 118 : 2496–505. [Google Scholar]
Coen K, Pareyson D, Auer-Grumbach M, et al. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology 2006; 66 : 748–51. [Google Scholar]
O’Reilly M, Marshall E, Speirs HJ, Brown RW. WNK1, a gene within a novel blood pressure control pathway, tissue-specifically generates radically different isoforms with and without a kinase domain. J Am Soc Nephrol 2003 : 14 : 2447–56. [Google Scholar]
Wade JB, Fang L, Liu J, et al. WNK1 kinase isoform switch regulates renal potassium excretion. Proc Natl Acad Sci USA 2006; 103 : 8558–63. [Google Scholar]
Dhaka A, Viswanath V, Patapoutian A. Trp ion channels and temperature sensation. Annu Rev Neurosci 2006; 29 : 135–61. [Google Scholar]

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[1] Roddier K, Thomas T, Marleau G, et al. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology 2005; 64 : 1762–7. [Google Scholar]

[2] Ota M, Ellefson RD, Lambert EH, Dyck PJ.Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. Arch Neurol 1973; 29 : 23–37. [Google Scholar]

[3] Lafrenière RG, MacDonald ML, Dube MP, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004; 74 : 1064–73. [Google Scholar]

[4] Wilson FH, Disse-Nicodème S, Choate KA, et al. Human hypertension caused by mutations in WNK kinases. Science 2001; 293 : 1107–12. [Google Scholar]

[5] Sun X, Gao L, Yu RK, Zeng G. Downregulation of WNK1 protein kinase in neural progenitor cells suppresses cell proliferation and migration. J Neurochem 2006; 99 : 1114–21. [Google Scholar]

[6] Delaloy C, Hadchouel J, Imbert-Teboul M,et al. Cardiovascular expression of the mouse WNK1 gene during development and adulthood revealed by a BAC reporter assay. Am J Pathol 2006; 169 : 105–18. [Google Scholar]

[7] Shekarabi M, Girard N, Rivière JB,et al. Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 2008; 118 : 2496–505. [Google Scholar]

[8] Coen K, Pareyson D, Auer-Grumbach M, et al. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology 2006; 66 : 748–51. [Google Scholar]

[9] O’Reilly M, Marshall E, Speirs HJ, Brown RW. WNK1, a gene within a novel blood pressure control pathway, tissue-specifically generates radically different isoforms with and without a kinase domain. J Am Soc Nephrol 2003 : 14 : 2447–56. [Google Scholar]

[10] Wade JB, Fang L, Liu J, et al. WNK1 kinase isoform switch regulates renal potassium excretion. Proc Natl Acad Sci USA 2006; 103 : 8558–63. [Google Scholar]

[11] Dhaka A, Viswanath V, Patapoutian A. Trp ion channels and temperature sensation. Annu Rev Neurosci 2006; 29 : 135–61. [Google Scholar]