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
1  Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
2  Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom
,
Vincenzo Salpietro
1  Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
,
Conceicao Bettencourt
1  Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
2  Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom
,
Henry Houlden
1  Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
› Author Affiliations
Funding This study was supported in part by The Wellcome Trust in equipment and strategic award (Synaptopathies) funding (WT093205 MA and WT104033AIA).
Further Information

Publication History

26 February 2018

05 April 2018

Publication Date:
14 June 2018 (eFirst)

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.

Ethical Publication Statement

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Author Contributions

Stephanie Efthymiou: study design and experimental data acquisition, analysis and interpretation of data.


Dr. Vincenzo Salpietro: study concept and clinical data contribution to the manuscript, analysis and interpretation of data.


Dr. Conceicao Bettencourt: critical revision of the manuscript document.


Prof. Henry Houlden: study supervision.