An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome

被引：11
|
作者：
Müller, JS
Stucka, R
Neudecker, S
Zierz, S
Schmidt, C
Huebner, A
Lochmüller, H
Abicht, A
机构：
[1] Univ Munich, Mol Myol Lab, Dept Neurol, Friedrich Baur Inst, D-81377 Munich, Germany
[2] Univ Halle Wittenberg, Dept Neurol, Dresden, Germany
[3] Tech Univ Dresden, Dept Pediat, D-8027 Dresden, Germany
来源：
NEUROLOGY | 2005年 / 65卷 / 03期
关键词：
D O I：
10.1212/01.wnl.0000172346.26219.fd
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. The molecular consequences of a novel intronic base alteration ( CHRNE IVS5-16G -> A) remote from the splice acceptor site were investigated in vivo and in vitro. In conclusion, RNA analysis may be necessary to reveal unexpected splicing aberrations due to intronic mutations that are not part of the consensus splice site.
引用
收藏
页码：463 / 465
页数：3
相关论文
共 50 条
  • [1] A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome
    Richard, Pascale
    Gaudon, Karen
    Fournier, Emmanuel
    Jackson, Christopher
    Bauche, Stephanie
    Haddad, Hafedh
    Koenig, Jeanine
    Echenne, Bernard
    Hantai, Daniel
    Eymard, Bruno
    NEUROMUSCULAR DISORDERS, 2007, 17 (05) : 409 - 414
  • [2] A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome
    Chan, Cassie
    Emery, Lucy
    Aliu, Ermal
    Naik, Sunil
    Paul, Dustin
    Kumar, Ashutosh
    NEUROLOGY, 2023, 100 (17)
  • [3] De Novo CHRNE Mutation: Congenital Myasthenic Syndrome
    Tekin, Hande Gazeteci
    Yilmaz, Sanem
    Aktan, Gul
    Gokben, Sarenur
    JOURNAL OF PEDIATRIC RESEARCH, 2019, 6 (04) : 356 - 358
  • [4] A homozygous synonymous mutation in CHRNE responsible for an aberrant mRNA splicing leading to congenital myasthenic syndrome
    Pascale, Richard
    Karen, Gaudon
    Emmanuel, Fournier
    Hafedh, Haddad
    Jeanine, Koenig
    Bernard, Echenne
    Bruno, Eymard
    Daniel, Hantai
    NEUROMUSCULAR DISORDERS, 2006, 16 : S179 - S179
  • [5] A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
    Estephan, Eduardo de Paula
    da Rosa Sobreira, Claudia Ferreira
    Jose dos Santos, Andre Cleriston
    Tomaselli, Pedro Jose
    Marques, Wilson, Jr.
    Magalhes Ortega, Roberta Paiva
    Machado Costa, Marcela Camara
    Serafim da Silva, Andre Macedo
    Mendonca, Rodrigo Holanda
    Caldas, Vitor Marques
    Zambon, Antonio Alberto
    Abath Neto, Osorio
    Marchiori, Paulo Euripedes
    Heise, Carlos Otto
    Reed, Umbertina Conti
    Azuma, Yoshiteru
    Topf, Ana
    Lochmuller, Hanns
    Zanoteli, Edmar
    JOURNAL OF NEUROLOGY, 2018, 265 (03) : 708 - 713
  • [6] A case report of congenital myasthenic syndrome caused by a mutation in the CHRNE gene in the Iranian population
    Farjami, Zahra
    Khodaienia, Negar
    Ebrahimi, Neshat
    Zamani, Gholamreza
    Ashnaei, Amir Hosein
    Galehdari, Mohammad
    Moradyar, Mehdi
    Houshmand, Massoud
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2020, 14 (04) : 87 - 94
  • [7] A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
    Eduardo de Paula Estephan
    Cláudia Ferreira da Rosa Sobreira
    André Clériston José dos Santos
    Pedro José Tomaselli
    Wilson Marques
    Roberta Paiva Magalhães Ortega
    Marcela Câmara Machado Costa
    André Macedo Serafim da Silva
    Rodrigo Holanda Mendonça
    Vitor Marques Caldas
    Antonio Alberto Zambon
    Osório Abath Neto
    Paulo Eurípedes Marchiori
    Carlos Otto Heise
    Umbertina Conti Reed
    Yoshiteru Azuma
    Ana Töpf
    Hanns Lochmüller
    Edmar Zanoteli
    Journal of Neurology, 2018, 265 : 708 - 713
  • [8] CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
    Yang, Kunfang
    Cheng, Hongyi
    Yuan, Fang
    Meng, Linyi
    Yin, Rongrong
    Zhang, Yuanfeng
    Wang, Simei
    Wang, Chunmei
    Lu, Yanfen
    Xi, Jiaming
    Lu, Qin
    Chen, Yucai
    MEDICINE, 2018, 97 (17)
  • [9] Myasthenia gravis associated with thymoma in a patient with CHRNE congenital myasthenic syndrome
    Santos, Ernestina
    Moreira, Isabel
    Leite, Maria Isabel
    Lima, Jose Lopes
    JOURNAL OF NEUROIMMUNOLOGY, 2014, 275 (1-2) : 45 - 45
  • [10] Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations: Report of Patients in Arabia
    Salih, Mustafa A.
    Oystreck, Darren T.
    Al-Faky, Yasser H.
    Kabiraj, Mohammed
    Omer, Mohamed I. A.
    Subahi, Elamin M.
    Beeson, David
    Abu-Amero, Khaled K.
    Bosley, Thomas M.
    JOURNAL OF NEURO-OPHTHALMOLOGY, 2011, 31 (01) : 42 - 47
12345