New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

► We report 13 patients with hypothyroidism due to thyroglobulin gene mutations. ► Molecular analysis reveals seven novels and three previously reported mutations. ► One patient carried three mutations together with a hypothetical micro deletion. ► The p.C1262Y induces a significant protein secondary structure rearrangement. ► Our results confirm the genetic heterogeneity of thyroglobulin defects.