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

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.

SUBMITTER: Efthymiou S

PROVIDER: S-EPMC6087480 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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

Efthymiou Stephanie S Salpietro Vincenzo V Bettencourt Conceicao C Houlden Henry H

Journal of pediatric genetics 20180614 3

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.S ...[more]

PMID: 30105118

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