Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

Stephanie Efthymiou; Vincenzo Salpietro; Conceicao Bettencourt; Henry Houlden

doi:10.1055/s-0038-1651526

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2018; 07(03): 114-116
DOI: 10.1055/s-0038-1651526

Rapid Communication

Georg Thieme Verlag KG Stuttgart · New York

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

Stephanie Efthymiou

¹Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom

²Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom

,

Vincenzo Salpietro

¹Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom

,

Conceicao Bettencourt

¹Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom

²Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom

,

Henry Houlden

¹Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom

› Institutsangaben

Abstract

Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype–phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses.

Keywords

KAT6A - startle reflex syndrome - global developmental delay

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Referenzen

References
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