Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.

ABSTRACT: FOXG1 (Forkhead Box G1) is a critical transcription factor for brain development, regulating progenitor cell proliferation, neuronal migration, and cortical circuit assembly. Pathogenic FOXG1 variants lead to FOXG1 syndrome, a neurodevelopmental disorder characterized by severe brain anomalies and cognitive impairments. Despite efforts to correlate genetic variants with clinical outcomes, the precise relationship remains elusive. Here, we analyzed clinical severity and brain anomalies in 14 individuals with FOXG1 variants, investigating how these variants impact FOXG1's properties and functions. We uncovered a strong correlation between the severity of brain anomalies in affected individuals and functional alterations of these variants. Variants with very low protein expression were associ

SUBMITTER: Lin TY 

PROVIDER: S-EPMC12436187 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature