Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.

ABSTRACT: SATB2-associated syndrome is an autosomal dominant neurodevelopmental syndrome caused by genetic alterations in the transcription factor SATB2. The associated phenotype is variable, and genotype-phenotype correlation studies have not yet been able to explain differences in severity and symptoms across affected individuals. While haploinsufficiency is the most often described disease mechanism, with the majority of variants consisting of whole- or partial-gene deletions and protein truncating variants with predicted loss of function, approximately one-third of affected individuals carry a SATB2 missense variant with an unknown effect. In this study, we sought to functionally characterize these missense variants to uncover associated pathogenic mechanisms. We combined a set of human cell-bas

SUBMITTER: den Hoed J 

PROVIDER: S-EPMC12639615 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature