2017 Data (Information)
Supplemental Data: TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus
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.
- Supplemental_Data_TBC1D24_Mutations_in_a_Sibship_with_Multifocal_Polymyoclonus.pdf application/pdf 1.77 MB Download File
More About This Work
- Academic Units
- Center for Parkinson's Disease and Other Movement Disorders
- Published Here
- April 10, 2017
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