Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

Authors

  • Joy Irobi,

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
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  • Eva Nelis,

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
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  • Kristien Verhoeven,

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
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  • Els De Vriendt,

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
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  • Ines Dierick,

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
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  • Peter De Jonghe,

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
    2. University Hospital of Antwerp (UZA),
      Division of Neurology, Antwerpen, Belgium
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  • Christine Van Broeckhoven,

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
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  • Vincent Timmerman

    1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB),
      Born-Bunge Foundation (BBS), University of Antwerp (UIA)
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Address correspondence to: Prof. Dr. Vincent Timmerman, Ph.D., Peripheral Neuropathy Group, Department of Molecular Genetics (VIB8), University of Antwerp (UIA), Universiteitsplein 1, B-2610 Antwerpen, Belgium. Tel: +32-3-8202499; Fax: +32-3-8202541; E-mail: vincent.timmerman@ua.ac.be

Abstract

Abstract  Distal hereditary motor neuropathies (distal HMNs) are characterized by degeneration of anterior horn cells of the spinal cord resulting in muscle weakness and atrophy. Distal HMN type II is genetically linked to chromosome 12q24.3 and located within a 13 cM region flanked by D12S86 and D12S340. We previously excluded 5 positional and functional candidate genes for distal HMN II. Here, we report the exclusion of 12 additional candidate genes localized within the distal HMN II region; the genes include musashi (Drosophila) homolog 1 (MSI1), protein inhibitor of neuronal nitric oxide synthase (PIN), peripherin (PRPH), tubulin alpha ubiquitous (K-ALPHA-1), tubulin alpha 3 (TUBA3), tubulin alpha 6 (TUBA6), splicing factor arginine/serine-rich 9 (SFRS9), U5 snRNP 100 kd (U5-100K), putative chemokine receptor, GTP-binding protein (HM74), MondoA, cut (Drosophila)-like homeobox 2 (CUX2) and ADP-ribosylation factor 3 (ARF3).

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