Published 2018
| Version v1
Publication
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A
Description
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.
Additional details
- URL
- http://hdl.handle.net/11567/981625
- URN
- urn:oai:iris.unige.it:11567/981625
- Origin repository
- UNIGE