TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W. Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A. Kurian (Lead / Corresponding author)

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    Abstract

    BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.

    CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings. The mutations included a missense change c.457G>A (p.Glu157Lys), and a novel frameshift mutation c.545del (p.Thr182Serfs*6).

    DISCUSSION: We propose that TBC1D24-related diseases should be in the differential diagnosis for children with polymyoclonus.

    Original languageEnglish
    Pages (from-to)1-7
    Number of pages7
    JournalTremor and Other Hyperkinetic Movements
    Volume7
    DOIs
    Publication statusPublished - 13 Apr 2017

    Keywords

    • TBC1D24
    • Myoclonus

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  • Cite this

    Ngoh, A., Bras, J., Guerreiro, R., McTague, A., Ng, J., Meyer, E., Chong, W. K., Boyd, S., MacLellan, L., Kirkpatrick, M., & Kurian, M. A. (2017). TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. Tremor and Other Hyperkinetic Movements , 7, 1-7. https://doi.org/10.7916/D8Q52VBV