Fig. 2

Spectrum of pathogenic variants reported in the FOXG1 syndrome patient registry. The distribution of reported pathogenic or likely pathogenic FOXG1 missense, frameshift, and nonsense variants are depicted (A). The majority of missense variants cluster in the conserved forkhead DNA binding domain, whereas frameshift and nonsense variants are dispersed throughout the coding sequence. Specific protein domains or characteristics have been outlined, including: a poly-histidine tract (pHis, amino acids 47–57), the forkhead DNA binding domain (amino acids 181–275), the Groucho-binding domain (GBD, amino acids 307–317), and a JARID-1B-binding domain (JBD, amino acids 383–406). Frameshift = ▽, recurrent frameshift = ▽, nonsense = ▼, recurrent nonsense = ▼, missense = ▲, recurrent missense = ▲. The frequency of unique genotypes across the 122 participants are shown in a pie chart (B)