TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus
نویسندگان
چکیده
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.
منابع مشابه
TBC1D24 genotype–phenotype correlation
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عنوان ژورنال:
دوره 7 شماره
صفحات -
تاریخ انتشار 2017