Work

P300: Expanding the neuropsychological phenotype of KAT6B disorders: Overlapping features with KAT6A syndrome

Year: 2024

Type: article

Abstract: KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and both similarly regulate gene expression via histone modification. Pathogenic variants in KAT6A or KAT6B result in KAT6A syndrome or a KAT6B disorder, respectively. A growing body of literature on KAT6A syndrome suggests nearly all affected individuals present with intellectual impairment and severe speech/language deficits juxtaposed with relatively low concerns for behavior regulation difficulties, yet literature on neuropsychological functioning associated with KAT6B disorders is nearly non-existent.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101196

Authors: Rowena Ng, Allison Kalinousky, Jacqueline Harris

Institutions: Kennedy Krieger Institute, Johns Hopkins University, Johns Hopkins Medicine

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200