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. Author manuscript; available in PMC: 2020 Nov 1.
Published in final edited form as: Amyotroph Lateral Scler Frontotemporal Degener. 2019 Jun 27;20(7-8):568–575. doi: 10.1080/21678421.2019.1632347

Figure 2.

Figure 2.

Confirmation of the TBK1 c.992+1G>A mutation and effect on TBK1 splicing. Presence of the c.992+1G>A mutation was confirmed by Sanger sequencing in Case 1 and Case 2 (red rectangle). c.992+1G>A is absent from the genomic DNA of an unaffected sibling (A). RT-PCR using primers specific for TBK1 exons 7 and 9 in Case 1 shows the presence of a product representing the wild-type cDNA (blue rectangle) and a shorter product (red rectangle). Sanger sequencing revealed that the shorter product lacks TBK1 exon 8. MW = molecular-weight size DNA marker.