The other two variants were PAX8 c.1064C>T/p.A355V (rs145036350) and PAX8 c.-26G>A in two unrelated athyroid patients with thyroid dysgenesis; given the thyroid agenesis in the affected patients, it is possible that the former may impair the PAX8 protein function since it is a non-sense mutation and the latter may affect the PAX8 gene expression since it is in the promoter area. Here, PAX8 is linked to hypothyroidism, congenital, nongoitrous, 2.