Fig. 2

In vitro minigene assay demonstrated an aberrant transcript produced due to the synonymous variant in KCNQ2. a A schematic illustration of the synonymous variant c.1617C > T (p.Ser539=) (NM_172107.3) (highlighted in red) in KCNQ2 causing aberrant splicing. b RT-PCR amplified minigene transcripts showed the variants cause recruitment of a cryptic splicing donor site in exon 14 at position c.1612 resulted in a 20‐nt deletion. WT, wild‐type; mut: Mutation; 5’ss: donor splice site; 3’ss: acceptor splice site. c Deletion of 20-nt in exon 14 caused a frameshift in protein translation and introduced a premature termination codon (PTC) in exon15. Grey highlight: exon14; Cyan highlight: exon15; Red highlight:20-nt deletion. Yellow highlight: variant in this patient; Pink highlight: stop codon (TAA)