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Tremor Other Hyperkinet Mov (N Y). 2017 Apr 13;7:452. doi: 10.7916/D8Q52VBV. eCollection 2017.

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Author information

1
Neurosciences Unit, University College London, Institute of Child Health, London, UK.
2
Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
3
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
4
Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, Aveiro, Portugal.
5
Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
6
Department of Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
7
NHS Highland, UK.
8
Tayside Children's Hospital, Dundee, UK.

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.

KEYWORDS:

TBC1D24; myoclonus

Conflict of interest statement

Funding: A.N. is funded by a Guarantors of Brain Entry Fellowship and an Action Medical Research Training Fellowship. J.B. and R.G.’s work is supported by Fellowships from the Alzheimer’s Society. A.M. and J.N. are funded by Medical Research Council Clinical Research Training Fellowships. A.M. also receives funding from Medical Research Foundation, Child Brain Research and Young Epilepsy; and J.N. is also supported by Great Ormond Street Hospital Children’s Charities. M.A.K. is funded by a Wellcome Trust Intermediate Clinical Fellowship and receives funding from the Rosetrees Trust, Gracious Heart Charity Foundation Great Ormond Street Hospital Children’s Charities (GOSHCC) Child Brain Research and Rachel Marie Trafford Trust. Conflict of Interest: The authors report no conflict of interest. Ethics Statement: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.

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