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. 2021 Mar 4;12(3):364. doi: 10.3390/genes12030364

Figure 1.

Figure 1

Diagram showing forkhead box L2 (FOXL2), up- and downstream genomic position, protein structure, and hotspot located in the poly-alanine domain. (A) Chromosomal deletions were reported in at least 84 blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) patients, with the largest encompassing 3q22.3 to 3q24 (12 Mb) and the smallest encompassing FOXL2 or PIRST1 genes (UCSC: hg19:chr3:133,064,629-153,716,375). (B) FOXL2 is composed of one 2.9 kb exon (NM_02367.4). The stop codon is indicated with an asterisk (*). (C) FOXL2 is a 376 amino acid protein, composed of poly-glycine (amino acid position 35–43) depicted in light grey, a DNA binding protein or forkhead (amino acid 54–148) in dark, two poly-alanine (poly-Ala) region (amino acid 221–234 and 301–304) in grey, and a poly-proline region (amino acid 284–292) in light grey (Uniprot: P58012). The most common variants (more than five patients were reported) are represented herein, which affect the highly conserved poly-alanine domain (amino acid 221–234) with c.672_701dup p.(Ala224_Ala234dup) (n = 80), c.663_692dup p.(Ala221_Ala231dup) (n = 12), and c.664_693dup p.(Ala222_Ala231) (n = 5), or the poly-proline domain (amino acid 284–292) with c.843_859dup p.(Pro287Argfs*241) (n = 46), c.855_871del p.(Pro287Alafs*241) (n = 5), and c.855_871dup p.(His291Argfs*71) (n = 15). The nonsense variant c.655C>T p.(Gln219*) and the frameshift variant c.804dup p.(Gly269Argfs*265) were reported in 6 and 10 patients, respectively.