Fig. 1: Frameshift variants causing FS reveal the three mutation hot spots in the FOXG1 gene. | Nature Communications

Fig. 1: Frameshift variants causing FS reveal the three mutation hot spots in the FOXG1 gene.

From: The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome

Fig. 1

a Depictions of the human FOXG1 protein structure show that its N-terminal region includes domains rich in histidine (H), proline (P)/glutamine (Q), and glycine (G)/glutamic acid (E)/lysine (K). FOXG1 also contains a Forkhead DNA-binding domain (DBD) and Groucho- and Jarid-interacting domains. The three G (guanine) or C (cytosine)-repeat regions in the FOXG1-coding sequences, labeled as 7 C (coding DNA reference sequences, c.250-256), 7 G (c.454-460), and 6 G (c.501-506), are mutation-prone areas in FS. Frameshift mutations in these regions are annotated with a “p” prefix to signify the resulting amino acid sequence changes. b, c Pie charts showing the fraction of each mutation type that results in FS (b) and the fraction of frameshift mutations occurring before, within, or after the DBD in the FOXG1 protein (c). d Clinical findings of eight FS patients with FOXG1 mutations at c.250-256 and c.454-460 positions. e Frequency of phenotypes among the eight FS patients in (d).

Back to article page