Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families

被引:14
作者
Pacheco-Cuellar, G. [1 ]
Gonzalez-Huerta, L. M. [1 ]
Valdes-Miranda, J. M. [1 ]
Pelaez-Gonzalez, H. [2 ]
Zenteno-Bacheron, S. [3 ]
Cazarin-Barrientos, J. [4 ]
Cuevas-Covarrubias, S. A. [1 ]
机构
[1] Univ Nacl Autonoma Mexico, Serv Genet, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
[2] Univ Nacl Autonoma Mexico, Serv Radiol & Imagen, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
[3] Univ Nacl Autonoma Mexico, Serv Neurol, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
[4] Univ Nacl Autonoma Mexico, Serv Dermatol, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
关键词
STOP CODON; PATIENT; PROTEIN; TYPE-2;
D O I
10.1007/s00415-011-6025-x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1890 / 1892
页数:3
相关论文
共 12 条
[1]   Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2 [J].
Cho, Hyun-Jung ;
Kim, Byoung Joon ;
Suh, Yeon-Lim ;
An, Jae-Young ;
Ki, Chang-Seok .
JOURNAL OF HUMAN GENETICS, 2006, 51 (10) :905-908
[2]   Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II [J].
Coen, K ;
Pareyson, D ;
Auer-Grumbach, M ;
Buyse, G ;
Goemans, N ;
Claeys, KG ;
Verpoorten, N ;
Laurà, M ;
Scaioli, V ;
Salmhofer, W ;
Pieber, TR ;
Nelis, E ;
De Jonghe, P ;
Timmerman, V .
NEUROLOGY, 2006, 66 (05) :748-751
[3]   Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier [J].
Cuevas-Covarrubias, SA ;
Jiménez-Vaca, AL ;
González-Huerta, LM ;
Valdes-Flores, M ;
Rivera-Vega, MD ;
Maya-Nunez, G ;
Kofman-Alfaro, SH .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 119 (04) :972-975
[4]   Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy [J].
Kurth, Ingo ;
Pamminger, Torsten ;
Hennings, J. Christopher ;
Soehendra, Desiree ;
Huebner, Antje K. ;
Rotthier, Annelies ;
Baets, Jonathan ;
Senderek, Jan ;
Topaloglu, Haluk ;
Farrell, Sandra A. ;
Nuernberg, Gudrun ;
Nuernberg, Peter ;
De Jonghe, Peter ;
Gal, Andreas ;
Kaether, Christoph ;
Timmerman, Vincent ;
Huebner, Christian A. .
NATURE GENETICS, 2009, 41 (11) :1179-1181
[5]   Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates [J].
Lafrenière, RG ;
MacDonald, MLE ;
Dubé, MP ;
MacFarlane, J ;
O'Driscoll, M ;
Brais, B ;
Meilleur, S ;
Brinkman, RR ;
Dadivas, O ;
Pape, T ;
Platon, C ;
Radomski, C ;
Risler, J ;
Thompson, J ;
Guerra-Escobio, AM ;
Davar, G ;
Breakefield, XO ;
Pimstone, SN ;
Green, R ;
Pryse-Phillips, W ;
Goldberg, YP ;
Younghusband, HB ;
Hayden, MR ;
Sherrington, R ;
Rouleau, GA ;
Samuels, ME .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) :1064-1073
[6]   A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene causing, respectively, nonclassic and classic 3β-HSD deficiency congenital adrenal hyperplasia [J].
Pang, SY ;
Wang, WH ;
Rich, B ;
David, R ;
Chang, YT ;
Carbunaru, G ;
Myers, SE ;
Howie, AF ;
Smillie, KJ ;
Mason, JI .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (06) :2556-2563
[7]   A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family [J].
Rivière, JB ;
Verlaan, DJ ;
Shekarabi, M ;
Lafrenière, RG ;
Bérnard, M ;
Der Kaloustian, VM ;
Shbaklo, Z ;
Rouleau, GA .
ANNALS OF NEUROLOGY, 2004, 56 (04) :572-575
[8]   Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians [J].
Roddier, K ;
Thomas, T ;
Marleau, G ;
Gagnon, AM ;
Dicaire, MJ ;
St-Denis, A ;
Gosselin, I ;
Sarrazin, AM ;
Larbrisseau, A ;
Lambert, M ;
Vanasse, M ;
Gaudet, D ;
Rouleau, GA ;
Brais, B .
NEUROLOGY, 2005, 64 (10) :1762-1767
[9]   The GPR54 gene as a regulator of puberty [J].
Seminara, SB ;
Messager, S ;
Chatzidaki, EE ;
Thresher, RR ;
Acierno, JS ;
Shagoury, JK ;
Bo-Abbas, Y ;
Kuohung, W ;
Schwinof, KM ;
Hendrick, AG ;
Zahn, D ;
Dixon, J ;
Kaiser, UB ;
Slaugenhaupt, SA ;
Gusella, JF ;
O'Rahilly, S ;
Carlton, MBL ;
Crowley, WF ;
Aparicio, SAJR ;
Colledge, WH .
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (17) :1614-U8
[10]   Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II [J].
Shekarabi, Masoud ;
Girard, Nathalie ;
Riviere, Jean-Baptiste ;
Dion, Patrick ;
Houle, Martin ;
Toulouse, Andre ;
Lafreniere, Ronald G. ;
Vercauteren, Freya ;
Hince, Pascale ;
Laganiere, Janet ;
Rochefort, Daniel ;
Faivre, Laurence ;
Samuels, Mark ;
Rouleau, Guy A. .
JOURNAL OF CLINICAL INVESTIGATION, 2008, 118 (07) :2496-2505