Fig. 2

Overview of reported pathogenic variants in FOXC1 (NP_001444.2). a Locations of single nucleotide variants and Indels, including missense/ nonsense, splicing, small deletion/ small insertions. The position of FOXC1 p.Arg173del is highlighted in red. b Location of genomic structural variants including gross deletions/ insertions. The p25.3-p22.3 region of interest is surrounded by a red box on the chromosome 6 ideogram, and the chromosome 6 p25.3 is shown as a red line, which includes the FOXC1 gene and other gene loci. Such as: GMDS, FOXCUT, FOXF2, etc. The dashed line represents the fragment beyond the range of p25.3-p22.3, the green bar represents the target gene FOXC1, and the gray bar represents its surrounding genes. c Conservational analysis of FOXC1 p.Arg173del. Protein alignment showing FOXC1 p.Arg173del occurred at evolutionarily conserved amino acids (in red box) across 6 species