Skip to main content
. 2022 Jan 16;30(3):384–388. doi: 10.1038/s41431-021-01023-4

Fig. 2. Molecular analyses.

Fig. 2

A Sequencing of patient derived cDNA demonstrates the underlying exon 7 sequence beginning at the junction of exon 8 and 9 of the SMO transcript within individuals I-2 & II-1. The underlying exon 7 sequence is annotated in green text. The sequencing displayed is in the reverse direction. B Gel electrophoresis of RT-PCR products demonstrating the two alleles for I-2 and II-1 representing the canonically spliced SMO transcripts (1069 bp) and the alternatively spliced SMO transcript not containing exon 8 (960 bp). aMeridian Bioscience EasyladderI (Cincinnati, OH, USA). -VE: No SuperScript® III/RNaseOUTTM Enzyme Mix (Thermo Fisher Scientific, Waltham, MA, USA) added; NTC: No Template Control. C RT-PCR demonstrates the paternal allele containing the missense variant is the most abundant normally spliced mRNA transcript, confirming a partial mis-splicing of the maternal allele housing the synonymous variant.