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Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

  • Published:2019-04-22 Issue:3 Volume:20 Page:117-127
  • ISSN:1364-6745
  • Container-title:neurogenetics
  • language:en
  • Short-container-title:Neurogenetics

Author:

Tey Shelisa,Shahrizaila Nortina,Drew Alexander P.,Samulong Sarimah,Goh Khean-Jin,Battaloglu Esra,Atkinson Derek,Parman Yesim,Jordanova Albena,Chung Ki Wha,Choi Byung-Ok,Li Yi-Chung,Auer-Grumbach Michaela,Nicholson Garth A.,Kennerson Marina L.,Ahmad-Annuar Azlina

Funder

Ministry of Higher Education, Malaysia

National Health and Medical Research Grant

Korean Health Technology R&D Project, Ministry of Health & Welfare

Ministry of Science and Technology, Taiwan

Research Fund of the University of Antwerp

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Reference35 articles.

1. Brennan KM, Bai Y, Shy ME (2015) Demyelinating CMT—what’s known, what’s new and what’s in store? Neurosci Lett 596:14–26

2. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259–280

3. Timmerman V, Strickland A, Züchner S (2014) Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success. Genes 5:13–32

4. Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A (2012) Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 44:1080–1083

5. Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic Vedrana M, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney Mary G, Taroni F, Lunn Michael P, Moroni I, Gonzalez M, Hanna Michael G, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim Siew C, Song H, Choi B-O, Horvath R, Chung K-W, Zuchner S, Pareyson D, Harms M, Reilly Mary M, Houlden H (2014) Truncating and missense mutations in IGHMBP2 cause Charcot-Marie-Tooth disease type 2. Am J Hum Genet 95:590–601

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