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. 2018 Sep 11;28(9):1221–1223. doi: 10.1089/thy.2018.0015

FIG. 1.

FIG. 1.

(A) Pedigree of the family, indicating the genotype of each individual and the results of thyroid function tests, aligned with the symbol of each family member. Note that in addition, the parents have autoimmune thyroid disease. *Low triiodothyronine (T3) value for the patient's age. (B) Graphic representation of the SECISBP2 protein: the positions of the methionines used as alternative translation initiation sites are indicated. Western blot for (C) SECISBP2 and (D) GPX1, in extracts of cultured skin fibroblasts from the proband and controls, consisting of unrelated individuals without SECISBP2 mutations (WT) and patients with biallelic SECISBP2 mutations (Pt): Pt2 is homozygous for SECISBP2 p.R540Q (1) and Pt3 is compound heterozygous for SECISBP2 p.Q782* and p.K682fs*1 (5); beta-actin was used as loading control. In (C), the arrow indicates full-length isoform and the arrowhead indicates short isoform of SECISBP2. (E) GPX enzymatic activity in serum of family members. (F) Western blot for GPX3 in serum from family members, normal controls (WT), and patients with biallelic SECISBP2 mutations and heterozygotes family members (Het). Pt4 is homozygous and Het4 is heterozygous for SECISBP2 p.R540Q (1), Pt 5 is homozygous, and Het5 is heterozygous for SECISBP2 p.R128* (3). Transferrin was used as a loading control.