Fig. 2. Schematic diagram of transcript analysis of the control and patient. (A) The c.1408+4A>G variant causes aberrant RNA splicing, resulting in the skipping of exon 13 (r.1265_1408del). (B) The r.1265_1408del mutant translates into a protein with a 49-amino-acid deletion and an insertion of a glycine in the deleted region (p.Glu422_Arg470delinsGly). Residues 422–464 within the deleted region are part of the chromodomain (residues 390–464). (C) Sanger sequencing chromatograms demonstrating heterozygosity for the variant that causes exon 13 skipping (forward sequence).

Ann Lab Med 2024;44:188~191 https://doi.org/10.3343/alm.2023.0163