Article

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

2025-05-29

Abstract excerpt

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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 721a5512-fca2-5d0a-992a-d5a006e3f691
DOI: 10.1101/2025.05.28.656698

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activityDOI 10.1101/2025.05.28.656698Read

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.Semantic proximity Read

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionSemantic proximity Read

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Semantic proximity Read

Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.Semantic proximity Read

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.Semantic proximity Read

Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencingSemantic proximity Read

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.Semantic proximity Read

Further delineation of the SATB2 phenotype.Semantic proximity Read

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.Semantic proximity Read

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.Semantic proximity Read

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.Semantic proximity Read

Identification and Functional Characterization of a Novel De Novo SATB1 Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders.Semantic proximity Read