Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report

Figure 1 Propionyl-CoA carboxylase alpha subunit (PCCA) gene variant in the present family. A: Schematic representation of the intron 22-exon 23 boundary of the PCCA gene and the predicted in silico generation of a possible cryptic acceptor site; B: Partial electropherograms (only forward strands are shown) of the intron 22-exon 23 region of the PCCA gene (NG_008768.1 and NM_000282.3) in both parents and embryo E1 demonstrated a heterozygous genotype for the likely pathogenic variant c.2041-1G>T. The G-to-T transversion predicts an abolished splicing acceptor site in the PCCA intron 22. A wild-type PCCA genotype was noted for embryo E2 as well as in the healthy control included in the analysis. Sanger sequencing was performed, in triplicate, for the PGT-M assays.