<i>TBC1D24</i> Mutations in a Sibship with Multifocal Polymyoclonus.

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 fo

SUBMITTER: Ngoh A 

PROVIDER: S-EPMC5395678 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature