Figure 2.

Identification of a pathogenic splice variant of c.37+2T in STXBP1. (A) The candidate pathogenic variants screened by trio WES. (B) Confirmation of the variant by direct Sanger sequencing. (C) The pedigree of the family. According to the results, the affected girl harbored the de novo mutation. Arrow marked the proband. (D) The multiple alignments of the adjacent amino acid residues to the donor splice site. The adjacent amino acids were highly conserved between species. Red box highlight the amino acid of the mutation site.