PMC6109756_01
PMC6109756_02
PMC6109756_03
Novel homozygous mutation on JAK3. Sequence analysis of the patients compared to a healthy control showing in the genomic DNA the guanine [G] per adenosine [A] single nucleotide substitution (A); agarose gel electrophoresis of Pt.1 and Pt.2 compared to a control, showing fragments with a smaller molecular weight in the patients (B); sequencing of cDNA of patient 1 revealing the absence of the exon 17 in the patient (C).
fped-06-00230-g0002.jpg
PMC6109756_03_fped-06-00230-g0002.jpg
F2
Patient 1, revealing a homozygous missense mutation in the JAK3 gene, c.2350G>A, which was subsequently confirmed by Sanger sequencing Figure 2A. Pt.2 also presented the same mutation in JAK3. Figure 2B, consistent with a splicing defect. Finally, Sanger sequencing showed an absence of the entire exon 17 when compared to a healthy control sequence Figure 2C, confirming the prediction that the proximity of the mutation to the donor splice site disrupts the splicing process.