TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Adeline Ngoh; Jose Bras; Rita Guerreiro; Amy McTague; Joanne Ng; Esther Meyer; W. Kling Chong; Stewart Boyd; Linda MacLellan; Martin Kirkpatrick; Manju A. Kurian

doi:10.7916/D8Q52VBV

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Adeline Ngoh
, Jose Bras
, Rita Guerreiro
, Amy McTague
, Joanne Ng
, Esther Meyer
, W. Kling Chong
, Stewart Boyd
, Linda MacLellan
, Martin Kirkpatrick
, Manju A. Kurian (Lead / Corresponding author)

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

268 Downloads (Pure)

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.

Original language	English
Pages (from-to)	1-7
Number of pages	7
Journal	Tremor and Other Hyperkinetic Movements
Volume	7
DOIs	https://doi.org/10.7916/D8Q52VBV
Publication status	Published - 13 Apr 2017

Keywords

TBC1D24
Myoclonus

Access to Document

10.7916/D8Q52VBVLicence: CC BY-NC-ND

Final Published Version
(c) 2017 Ngoh et al. This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original authors and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
Final published version, 6.86 MBLicence: CC BY-NC-ND

Cite this

@article{78c6350682144c9aaad97f597668dac8,

title = "TBC1D24 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 for children with polymyoclonus.",

keywords = "TBC1D24, Myoclonus",

author = "Adeline Ngoh and Jose Bras and Rita Guerreiro and Amy McTague and Joanne Ng and Esther Meyer and Chong, \{W. Kling\} and Stewart Boyd and Linda MacLellan and Martin Kirkpatrick and Kurian, \{Manju A.\}",

note = "A.N. is funded by a Guarantors of Brain Entry Fellowship and an Action Medical Research Training Fellowship. J.B. and R.G.{\textquoteright}s work is supported by Fellowships from the Alzheimer{\textquoteright}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{\textquoteright}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{\textquoteright}s Charities (GOSHCC) Child Brain Research and Rachel Marie Trafford Trust.",

year = "2017",

month = apr,

day = "13",

doi = "10.7916/D8Q52VBV",

language = "English",

volume = "7",

pages = "1--7",

journal = "Tremor and Other Hyperkinetic Movements ",

issn = "2160-8288",

publisher = "Columbia University, Library/Information Service, Center for Digital Research and Scholarship",

}

TY - JOUR

T1 - TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

AU - Ngoh, Adeline

AU - Bras, Jose

AU - Guerreiro, Rita

AU - McTague, Amy

AU - Ng, Joanne

AU - Meyer, Esther

AU - Chong, W. Kling

AU - Boyd, Stewart

AU - MacLellan, Linda

AU - Kirkpatrick, Martin

AU - Kurian, Manju A.

N1 - 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.

PY - 2017/4/13

Y1 - 2017/4/13

N2 - 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.

AB - 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.

KW - TBC1D24

KW - Myoclonus

U2 - 10.7916/D8Q52VBV

DO - 10.7916/D8Q52VBV

M3 - Article

C2 - 28428906

SN - 2160-8288

VL - 7

SP - 1

EP - 7

JO - Tremor and Other Hyperkinetic Movements

JF - Tremor and Other Hyperkinetic Movements

ER -

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Abstract

Keywords

Access to Document

Fingerprint

Cite this