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Supplemental Data: TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Ngoh, Adeline; Bras, Jose; Guerreiro, Rita; McTague, Amy; Ng, Joanne; Meyer, Esther; Chong, W. Kling; Boyd, Stewart; MacLellan, Linda; Kirkpatrick, Martin; Kurian, Manju A.

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.

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More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
April 10, 2017

Notes

This supplementary data is associated with the article "TBC1D24 mutations in a sibship with multifocal polymyoclonus" published in Tremor and Other Hyperkinetic Movements and available at http://dx.doi.org/10.7916/D8Q52VBV

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