Functional analysis of pathogenic variants affecting p.Gly392 in SATB2 using Drosophila

In collaboration with Dr. Yuri Zarate, we studied the function of different missense variants that affect a single amino acid. Recurrent variants are found in this position in individuals with SATB2-associated syndrome (SAS) and individuals with a missense variant in this position seems to have more severe neurodevelopmental phenotypes compared to other cases. A larger study is currently underway to systematically study the functional consequences of SATB2 variants.