TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus
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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Also Published In
- Tremor and Other Hyperkinetic Movements
More About This Work
- Academic Units
- Center for Parkinson's Disease and Other Movement Disorders
- Published Here
- November 22, 2017
Supplemental data found at doi:10.7916/D8QN6CZG