A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient

Rivière J-B, Verlaan DJ, Shekarabi M, Lafrenière RG, Bénard M, Der Kaloustian VM, et al. A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Ann Neurol. 2004;56:572–5. https://doi.org/10.1002/ana.20237

Article  PubMed  Google Scholar 

Takagi M, Ozawa T, Hara K, Naruse S, Ishihara T, Shimbo J, et al. New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. Neurology. 2006;66:1251–2. https://doi.org/10.1212/01.wnl.0000208415.90685.cd

Article  PubMed  Google Scholar 

Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, et al. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology. 2005;64:1762–7. https://doi.org/10.1212/01.WNL.0000161849.29944.43

Article  PubMed  Google Scholar 

Lafreniere RG, MacDonald MLE, Dube M-P, MacFarlane J, O’Driscoll M, Brais B, 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. https://doi.org/10.1086/420795

Article  PubMed  PubMed Central  Google Scholar 

Davidson GL, Murphy SM, Polke JM, Laura M, Salih MAM, Muntoni F, et al. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol. 2012;259:1673–85. https://doi.org/10.1007/s00415-011-6397-y

Article  PubMed  PubMed Central  Google Scholar 

Kurth I. Hereditary sensory and autonomic neuropathy type II. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews®, Seattle (WA): University of Washington, Seattle; 1993.

Peces R, Peces C, Espinosa L, Mena R, Blanco C, Tenorio-Castaño J, et al. A Spanish family with Gordon syndrome due to a variant in the acidic motif of WNK1. Genes. 2023;14:1878. https://doi.org/10.3390/genes14101878

Article  PubMed  PubMed Central  Google Scholar 

Shekarabi M, Girard N, Rivière J-B, Dion P, Houle M, Toulouse A, 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. https://doi.org/10.1172/JCI34088

Article  PubMed  PubMed Central  Google Scholar 

Shimizu M, Shibuya H. WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway. Sci Rep. 2022;12:15858. https://doi.org/10.1038/s41598-022-20271-y

Article  PubMed  PubMed Central  Google Scholar 

Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, et al. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology. 2006;66:748–51. https://doi.org/10.1212/01.wnl.0000201191.57519.47

Article  PubMed  Google Scholar 

de Filette J, Hasaerts D, Seneca S, Gheldof A, Stouffs K, Keymolen K, et al. Polyneuropathy in a young Belgian patient: a novel heterozygous mutation in the WNK1/HSN2 gene. Neurol Genet. 2016;2:e42. https://doi.org/10.1212/NXG.0000000000000042

Article  PubMed  PubMed Central  Google Scholar 

Shima T, Yamamoto Y, Kanazawa N, Murata K-Y, Ito H, Kondo T, et al. Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. J Dermatol. 2018;45:e308–9. https://doi.org/10.1111/1346-8138.14336

Article  PubMed  Google Scholar 

Yuan J-H, Hashiguchi A, Yoshimura A, Sakai N, Takahashi MP, Ueda T, et al. WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: a Japanese cohort study. Clin Genet. 2017;92:659–63. https://doi.org/10.1111/cge.13037

Article  PubMed  Google Scholar 

Cho H-J, Kim BJ, Suh Y-L, An J-Y, Ki C-S. Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. J Hum Genet. 2006;51:905–8. https://doi.org/10.1007/s10038-006-0033-1

Article  PubMed  Google Scholar 

Pacheco-Cuellar G, González-Huerta LM, Valdés-Miranda JM, Peláez-González H, Zenteno-Bacheron S, Cazarin-Barrientos J, et al. Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families. J Neurol. 2011;258:1890–2. https://doi.org/10.1007/s00415-011-6025-x

Article  PubMed  Google Scholar 

Potulska-Chromik A, Kabzińska D, Lipowska M, Kostera-Pruszczyk A, Kochański A. A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. Acta Biochim Pol. 2012;59:413–5.

Article  PubMed  Google Scholar 

Rahmani B, Fekrmandi F, Ahadi K, Ahadi T, Alavi A, Ahmadiani A, et al. A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree. BMC Neurol. 2018;18:195. https://doi.org/10.1186/s12883-018-1201-6

Article  PubMed  PubMed Central  Google Scholar 

Wang JJ, Yu B, Li Z. The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA. BMC Med Genet. 2019;20:91. https://doi.org/10.1186/s12881-019-0828-5

Article  PubMed  PubMed Central  Google Scholar 

Gao LH, Li SS, Fu WZ. Hereditary sensory and autonomic neuropathy II due to mutation in the WNK1 gene in a Chinese family. Chin J Intl Med. 2016;55:953–5. https://doi.org/10.3760/cma.j.issn.0578-1426.2016.12.010

Article  Google Scholar 

Pastore S, Harripaul R, Azam M, Vincent JB. A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. J Hum Genet. 2020;65:493–6. https://doi.org/10.1038/s10038-020-0734-x

Article  PubMed  Google Scholar 

留言 (0)

沒有登入
gif