PMC9595572_01
Molecular characterization of a family with STAT1 gain-of-function mutation. Sequence chromatogram showing a missense variant c.866A > G, p.Y289C. The variant was heterozygous in the proband (C). Sanger sequencing results of his father (A) and mother (B).
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PMC9595572_01_fped-10-1001290-g001.jpg
F1
WES identified a heterozygous de novo STAT1 mutation in the child, c.866A > G, p.Y289C, which was further confirmed by Sanger sequencing (Figure 1).
PMC9595572_02