The presence of mutations in the NKX2-5 was to date detected in several patients with thyroid developmental defects, namely thyroid agenesis [p.R25C], hypoplasia [c.63A>G (p.E21E), c.73C>T (p.R25C), c.293G>A (p.S98N), c.676G>A (p.D226N)], and ectopy [p.R25C, p.A119S, p.R161P]. The gene discussed is NKX2-5; the disease is thyroid gland disorder.