2017 Articles
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.
Subjects
Files
- 452-9269-2-PB.pdf application/pdf 6.86 MB Download File
Also Published In
- 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