&lt;i&gt;TBC1D24&lt;/i&gt; Mutations in a Sibship with Multifocal Polymyoclonus

Adeline Ngoh,Amy Mctague,Rita Guerreiro,Stewart Boyd,Linda Maclellan,Martin Kirkpatrick,Jose Bras,Joanne Ng,W Kling Chong,Esther Meyer,Manju A Kurian

doi:10.5334/tohm.357

Abstract

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

Highlights

Myoclonus is defined as a sudden, brief, shock-like muscle contraction involving agonist and antagonist muscles, leading to a sudden jerky movement.[1]
We describe two siblings with infantile-onset multifocal polymyoclonus at rest who were found on whole-exome sequencing to have mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes,[3,4,5,6,7,8,9,10,11,12,13] hearing impairment,[14,15,16,17] and DOORS syndrome.[18]
Identification of causative genes can contribute to the understanding of disease mechanisms and may facilitate development of novel targeted therapies

Summary

Introduction

Myoclonus is defined as a sudden, brief (less than 100 ms), shock-like muscle contraction involving agonist and antagonist muscles, leading to a sudden jerky movement.[1]. We describe two siblings with infantile-onset multifocal polymyoclonus at rest who were found on whole-exome sequencing to have mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes (including familial infantile myoclonic epilepsy, migrating partial seizures of infancy),[3,4,5,6,7,8,9,10,11,12,13] hearing impairment,[14,15,16,17] and DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome.[18] Prolonged electroencephalograms (EEGs) revealed no epileptiform features; multiple EEGs captured episodes of polymyoclonus and demonstrated no EEG correlation.

Results

Conclusion