NKX2-5 mutational screening in 241 patients with TD allowed for identification of three heterozygous missense changes: (1) p.R25C in two patients: a 24-year-old woman with no evidence of cardiac malformation with thyroid ectopy and hypothyroidism and a 15-year-old boy with thyroid agenesis born at the 35th week of gestation. The gene discussed is NKX2-5; the disease is hypothyroidism.