Figure 1
From: FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
FOXG1 domains and distribution of variants. (a) Observed 54 FOXG1 variants in a schematic illustration; N-terminal domain, forkhead domain, forkhead domain conserved site 1 (cs), C-terminal domain of FOXG1 protein. Groucho-binding domain (GTBD, amino acids 307–406) and JARID1B-binding domain (JBD, amino acids 383–406) are indicated. Novel variants (full arrows), published variants (empty arrows). All missense variants (blue) cluster in the conserved forkhead domain including cs. Nonsense (green) and frameshift (black) variants are found in all protein domains. New and published FOXG1 variants are listed in Supplementary Table S2. Protein Ref Seq NP_005240.3. (b) Severity scores (boxplots) of the five FOXG1 genotype groups (group 1: N-terminal frameshift and nonsense variants; group 2: forkhead domain conserved site 1 missense variants; groups 3 and 4: forkhead domain except conserved site1, frameshift and nonsense variants (group 3) and missense variants (group 4); group 5: C-terminal frameshift and nonsense variants). Analysis revealed significantly lower severity (smaller score values) for carriers in genotype group 2 compared to group 1 (***P = 0.0020). (c) Motor ability (sitting, walking, functional hand use) differed significantly between FOXG1 genotype groups (***P ≤ 0.0017 compared to group 1). Displayed are observed percentages of patients with 95% confidence intervals (error bars) who fully acquired these motor skills.
