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TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Ngoh, Adeline; Bras, Jose; Guerreiro, Rita; McTague, Amy; Ng, Joanne; Meyer, Esther; Chong, W Kling; Boyd, Stewart; MacLellan, Linda; Kirkpatrick, Martin; Kurian, Manju A.
Afiliación
  • Ngoh A; Neurosciences Unit, University College London, Institute of Child Health, London, UK.
  • Bras J; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Guerreiro R; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • McTague A; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, Aveiro, Portugal.
  • Ng J; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Meyer E; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, Aveiro, Portugal.
  • Chong WK; Neurosciences Unit, University College London, Institute of Child Health, London, UK.
  • Boyd S; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • MacLellan L; Neurosciences Unit, University College London, Institute of Child Health, London, UK.
  • Kirkpatrick M; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Kurian MA; Neurosciences Unit, University College London, Institute of Child Health, London, UK.
Tremor Other Hyperkinet Mov (N Y) ; 7: 452, 2017.
Article en En | MEDLINE | ID: mdl-28428906
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Tremor Other Hyperkinet Mov (N Y) Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Tremor Other Hyperkinet Mov (N Y) Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido