Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1651526
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… read more here.
Keywords: novo truncating; mutation kat6a; movement disorder; truncating mutation ... See more keywords
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1710330
Abstract: De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. Here, we reported a 16-year-old girl with a… read more here.
Keywords: mutation kat6a; kat6a associated; pancraniosynostosis; frameshift mutation ... See more keywords