Fig. 2.

Alternative splicing of STK11 c.921-1G > C. A: RT-PCR was performed to detect the splicing patterns of STK11, with exons 2–9 as the amplified region; M: markers; 1 and 4: healthy control 1; 2 and 5: proband II-2; 3 and 6: healthy control 2, 4, 5, and 6 electrophoresis channels were for the internal control (GAPDH) expression. The expression level of STK11 mRNA in the proband was < 50% of that in healthy controls. B–C: Sanger sequencing of alternatively spliced products; C) wild type and D) deletion of 40 base pairs between exons 3 and 4. (B) Schematic representation of splicing models