case_images: PMC7267021_01
case_images: A homozygous missense mutation in exon 17 of the TYK2 gene in our patient.
case_images: fped-08-00253-g0001.jpg
case_images: PMC7267021_01_fped-08-00253-g0001.jpg
case_images: F1
case_images: Sequence analysis demonstrated the homozygous missense mutation in the exon 17 of the TYK2 gene of the patient, which was heterozygous in his parents (Figure 1).
case_images: The expression of TYK2 in these family members. (A) The qRT-PCR results of the patient and health control. (B) Western blot analysis results of Tyk2 protein in patient and health control.
case_images: fped-08-00253-g0002.jpg
case_images: PMC7267021_01_fped-08-00253-g0002.jpg
case_images: F2
case_images: TYK2 in patient-derived cells with the forward primer (5'-3' CAGATCAGACAGCACAGGGG) and the reverse primer (5'-3' GCAGTCCTTGAAGCTGGTCT). The results showed that this mutation leads to a decrease of TYK2 mRNA expression (Figure 2A). TYK2 protein expression found in the patient (Figure 2B).
case_images: Expression of TYK2 in wild type and c.2395G>A mutant HEK293T cell line. (A) The sanger analysis results of wild type and c.2395G>A mutant HEK293T cell; (B) mRNA expression of FLAG-TYK2 and TYK2-GFP in both wild type and c.2395G>A mutant HEK293T cell; (C) Western blot analysis results of FLAG-TYK2 and TYK2-GFP in both wild type and c.2395G>A mutant HEK293T cell.
case_images: fped-08-00253-g0003.jpg
case_images: PMC7267021_01_fped-08-00253-g0003.jpg
case_images: F3
case_images: We investigated c.2395G>A (p.G799R) mutant introduced into the HEK293T cell line (Figure 3A). TYK2-GFP (Figure 3B). To go along with this, this mutant also decreased the expressed protein of FLAG-TYK2 and TYK2-GFP in the western blot analysis (Figure 3C).