Ngoh, A;
Bras, J;
Guerreiro, R;
McTague, A;
Ng, J;
Meyer, E;
Chong, WK;
... Kurian, MA; + view all
(2017)
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Tremor and other Hyperkinetic Movements
, 7
10.7916/D8Q52VBV.
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Abstract
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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