Fig. 4
From: A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
Minigene assay of the TCOF1 c.4342 + 5_4342 + 8delGTGA splicing variant and a schematic of the splicing pattern. A RT-PCR of amplified WT and MT cDNA. B Sanger sequencing of the normal splicing isoform of the WT plasmid and isoform of the MT plasmid with c.4115_4342del. C Schematic of WT and MT splicing. D Predicted structure of the Treacle protein and the deleted amino acids p.Gly1373_Arg1448del (blue). WT, wild type; MT, mutant