Meghna Singh, Sarah J Spendlove, Angela Wei, Leroy M Bondhus, Aileen A Nava, Francisca N de L Vitorino, Seth Amano, Jacob Lee, Gesenia Echeverria, Dianne Gomez, Benjamin A Garcia, Valerie A Arboleda
Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo mutations in Lysine(K) acetyltransferase 6A (KAT6A). ARTHS is clinically heterogeneous and characterized by several common features, including intellectual disability, developmental and speech delay, and hypotonia, and affects multiple organ systems. KAT6A is the enzymatic core of a histone-acetylation protein complex; however, the direct histone targets and gene regulatory effects remain unknown. In this study, we use ARTHS patient (n = 8) and control (n = 14) dermal fibroblasts and perform comprehensive profiling of the epigenome and transcriptome caused by KAT6A mutations...
October 20, 2023: Human Genetics