PMC10266219_01
Family pedigree and genetic analyses. (A) Pedigree of the family with heterozygous mutation in TNFAIP3. (B) Whole-exome sequencing revealed a novel heterozygous mutation, c.1467_1468delinsAT (p.Glu490*), in TNFAIP3 in the patient, which was confirmed by Sanger Sequencing. (C) Schematic diagram of A20 protein and the location of the new identified mutation. OUT, ovarian tumor domain; ZnF 1-7, zinc finger domains.
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TNFAIP3, located in exon 7, was discovered, resulting in a stop-gained type mutation, p.Q490* ( Figure 1 ). The patient's parents and sister were found to be devoid of this variant.