Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria

被引:2
作者
Noguchi, Atsuko [1 ]
Tezuka, Tohru [2 ,3 ]
Okuda, Hiroko [2 ,4 ]
Kobayashi, Hatasu [5 ]
Harada, Kouji H. [6 ]
Yoshida, Takeshi [7 ]
Akioka, Shinji [8 ]
Wada, Keiko [9 ]
Takeya, Aya [2 ,10 ]
Kabata-Murasawa, Risako [11 ]
Kondo, Daiki [12 ]
Ishikawa, Ken [13 ]
Asano, Takeshi [14 ]
Fujiwara, Michimasa [15 ]
Hishikawa, Nozomi [16 ]
Mizukami, Tomoyuki [17 ]
Hitomi, Toshiaki [4 ]
Youssefian, Shohab [2 ,18 ]
Nagai, Yoshihiro [19 ]
Tanaka, Manabu [20 ]
Eto, Kaoru [21 ]
Shiraishi, Hideaki [22 ]
Amaya, Fumimasa [19 ]
Koizumi, Akio [2 ,23 ]
Takahashi, Tsutomu [1 ]
机构
[1] Akita Univ, Grad Sch Med, Dept Pediat, 1-1-1 Hondo, Akita 0108543, Japan
[2] Kyoto Univ, Grad Sch Med, Dept Pain Pharmacogenet, Yoshida Konoe Cho,Sakyo Ku, Kyoto 6068501, Japan
[3] Kyoto Univ, Grad Sch Med, Lab Integrat Mol Med, Yoshida Konoe Cho,Sakyo Ku, Kyoto 6068501, Japan
[4] St Marianna Univ, Sch Med, Dept Prevent Med, 2-16-1 Sugao,Miyamae Ku, Kanagawa 2168511, Japan
[5] Mie Univ, Grad Sch Med, Dept Environm & Mol Med, Edobashi 2-174, Tsu 5148507, Japan
[6] Kyoto Univ, Grad Sch Med, Dept Hlth & Environm Sci, Yoshida Konoe Cho,Sakyo Ku, Kyoto 6068501, Japan
[7] Kyoto Univ, Grad Sch Med, Dept Pediat, 54 Shogoin Kawahara Cho,Sakyo Ku, Kyoto 6068507, Japan
[8] Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Pediat, 465 Kajii Cho,Kawaramachi Hirokoji,Kamigyo Ku, Kyoto 6028566, Japan
[9] Gifu Univ, Grad Sch Med, Dept Epidemiol & Prevent Med, 1-1 Yanagido, Gifu 5011194, Japan
[10] Kyoto Okamoto Mem Hosp, Dept Gynecol, 100 Sayamanishi No Kuchi, Kumiyama, Kyoto 6130034, Japan
[11] Iwate Prefectural Nanko Hosp, Dept Psychiat, 17 Ohira, Ichinoseki 0270031, Japan
[12] Akita Kousei Med Ctr, Dept Pediat, 1-1-1 Iijima Nishibukuro, Akita 0110948, Japan
[13] Iwate Med Univ, Dept Pediat, 1-1 Iidai Dori 2 Chome, Yahaba, 0283695, Japan
[14] Nippon Med Sch, Chiba Hokusoh Hosp, Dept Pediat, 1715 Kamagari, Inzai 2701694, Japan
[15] NHO Fukuyama Med Ctr, Dept Pediat, 14-17,4 Chome,Okinogami Cho, Fukuyama 7208520, Japan
[16] Kurashiki Heisei Hosp, Dept Neurol, 4-3-38 Oimatsu Cho, Kurashiki 7100826, Japan
[17] Natl Hosp Org Kumamoto Med Ctr, Dept Pediat, 1-5 Ninomaru,Chuo Ku, Kumamoto 8600008, Japan
[18] Kyoto Univ, Grad Sch Med, Lab Mol Biosci, Yoshida Konoe Cho,Sakyo Ku, Kyoto 6068501, Japan
[19] Kyoto Prefectural Univ Med, Dept Pain Management & Palliat Care Med, 465 Kajii Cho Kawaramachi Hirokoji,Kamigyo Ku, Kyoto 6028566, Japan
[20] Saitama Prefectural Childrens Med Ctr, Div Gen Pediat, 1-2 Shin Toshin,Chuo Ku, Saitama 3308777, Japan
[21] Tokyo Womens Med Univ, Dept Pediat Cardiol, Tokyo 1628666, Japan
[22] Hokkaido Univ Hosp, Dept Pediat, North 15,West 7,Kita Ku, Sapporo 0608638, Japan
[23] Inst Publ Hlth & Welf Res, 18-13 Uzumasa Tanamoricho,Ukyo Ku, Kyoto 6168141, Japan
关键词
familial episodic pain syndrome; SCN11A; SCN10A; SCN9A; GATED SODIUM-CHANNELS; OF-FUNCTION MUTATION; ASSOCIATION; VARIANTS;
D O I
10.3390/ijms25136832
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Familial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of SCN11A, SCN10A, and SCN9A, which encode three voltage-gated sodium channels (VGSCs) expressed as key determinants of nociceptor excitability in primary sensory neurons. There may still be many undiagnosed patients with FEPS. A better understanding of the associated pathogenesis, epidemiology, and clinical characteristics is needed to provide appropriate diagnosis and care. For this study, nationwide recruitment of Japanese patients was conducted using provisional clinical diagnostic criteria, followed by genetic testing for SCN11A, SCN10A, and SCN9A. In the cohort of 212 recruited patients, genetic testing revealed that 64 patients (30.2%) harbored pathogenic or likely pathogenic variants of these genes, consisting of 42 (19.8%), 14 (6.60%), and 8 (3.77%) patients with variants of SCN11A, SCN10A, and SCN9A, respectively. Meanwhile, the proportions of patients meeting the tentative clinical criteria were 89.1%, 52.0%, and 54.5% among patients with pathogenic or likely pathogenic variants of each of the three genes, suggesting the validity of these clinical criteria, especially for patients with SCN11A variants. These clinical diagnostic criteria of FEPS will accelerate the recruitment of patients with underlying pathogenic variants who are unexpectedly prevalent in Japan.
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页数:17
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共 23 条
  • [1] Multiple clinical profiles of families with the short QT syndrome
    Akdis, D.
    Saguner, A. M.
    Medeiros-Domingo, A.
    Schaller, A.
    Balmer, C.
    Steffel, J.
    Brunckhorst, C.
    Duru, F.
    [J]. EUROPACE, 2018, 20 : F113 - F121
  • [2] A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy
    Alsaloum, Matthew
    Labau, Julie I. R.
    Sosniak, Daniel
    Zhao, Peng
    Almomani, Rowida
    Gerrits, Monique
    Hoeijmakers, Janneke G. J.
    Lauria, Giuseppe
    Faber, Catharina G.
    Waxman, Stephen G.
    Dib-Hajj, Sulayman
    [J]. JOURNAL OF NEUROPHYSIOLOGY, 2021, 126 (03) : 827 - 839
  • [3] Developmental expression of the TTX-resistant voltage-gated sodium channels Nav1.8 (SNS) and Nav1.9 (SNS2) in primary sensory neurons
    Benn, SC
    Costigan, M
    Tate, S
    Fitzgerald, M
    Woolf, CJ
    [J]. JOURNAL OF NEUROSCIENCE, 2001, 21 (16) : 6077 - 6085
  • [4] THE ROLE OF VOLTAGE-GATED SODIUM CHANNELS IN PAIN SIGNALING
    Bennett, David L.
    Clark, Alex J.
    Huang, Jianying
    Waxman, Stephen G.
    Dib-Hajj, Sulayman D.
    [J]. PHYSIOLOGICAL REVIEWS, 2019, 99 (02) : 1079 - 1151
  • [5] Understanding the physiological role of NaV1.9: Challenges and opportunities for pain modulation
    Brackx, Wayra
    Collaco, Rita de Cassia
    Theys, Margaux
    Vander Cruyssen, Jolien
    Bosmans, Frank
    [J]. PHARMACOLOGY & THERAPEUTICS, 2023, 245
  • [6] Gain-of-function Nav1.8 mutations in painful neuropathy
    Faber, Catharina G.
    Lauria, Giuseppe
    Merkies, Ingemar S. J.
    Cheng, Xiaoyang
    Han, Chongyang
    Ahn, Hye-Sook
    Persson, Anna-Karin
    Hoeijmakers, Janneke G. J.
    Gerrits, Monique M.
    Pierro, Tiziana
    Lombardi, Raffaella
    Kapetis, Dimos
    Dib-Hajj, Sulayman D.
    Waxman, Stephen G.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2012, 109 (47) : 19444 - 19449
  • [7] Familial gain-of-function Nav1.9 mutation in a painful channelopathy
    Han, Chongyang
    Yang, Yang
    te Morsche, Rene H.
    Drenth, Joost P. H.
    Politei, Juan M.
    Waxman, Stephen G.
    Dib-Hajj, Sulayman D.
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2017, 88 (03) : 233 - 240
  • [8] Early- and late-onset inherited erythromelalgia: genotypephenotype correlation
    Han, Chongyang
    Dib-Hajj, Sulayman D.
    Lin, Zhimiao
    Li, Yan
    Eastman, Emmanuella M.
    Tyrrell, Lynda
    Cao, Xianwei
    Yang, Yong
    Waxman, Stephen G.
    [J]. BRAIN, 2009, 132 : 1711 - 1722
  • [9] Familial episodic limb pain in kindreds with novel Nav1.9 mutations
    Kabata, Risako
    Okuda, Hiroko
    Noguchi, Atsuko
    Kondo, Daiki
    Fujiwara, Michimasa
    Hata, Kenichiro
    Kato, Yoshifumi
    Ishikawa, Ken
    Tanaka, Manabu
    Sekine, Yuji
    Hishikawa, Nozomi
    Mizukami, Tomoyuki
    Ito, Junichi
    Akasaka, Manami
    Sakurai, Ken
    Yoshida, Takeshi
    Minoura, Hironori
    Hayashi, Takashi
    Inoshita, Kohei
    Matsuyama, Misayo
    Kinjo, Noriko
    Cao, Yang
    Inoue, Sumiko
    Kobayashi, Hatasu
    Harada, Kouji H.
    Youssefian, Shohab
    Takahashi, Tsutomu
    Koizumi, Akio
    [J]. PLOS ONE, 2018, 13 (12):
  • [10] A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome
    Kremeyer, Barbara
    Lopera, Francisco
    Cox, James J.
    Momin, Aliakmal
    Rugiero, Francois
    Marsh, Steve
    Woods, C. Geoffrey
    Jones, Nicholas G.
    Paterson, Kathryn J.
    Fricker, Florence R.
    Villegas, Andres
    Acosta, Natalia
    Pineda-Trujillo, Nicolas G.
    Diego Ramirez, Juan
    Zea, Julian
    Burley, Mari-Wyn
    Bedoya, Gabriel
    Bennett, David L. H.
    Wood, John N.
    Ruiz-Linares, Andres
    [J]. NEURON, 2010, 66 (05) : 671 - 680