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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.

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.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8Q52VBV

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
November 22, 2017

Notes

Supplemental data found at doi:10.7916/D8QN6CZG