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

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2024年 / 25卷 / 13期

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.

引用

页数：17

共 23 条

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