Thyroglobulin gene mutations in congenital hypothyroidism.

  title={Thyroglobulin gene mutations in congenital hypothyroidism.},
  author={H{\'e}ctor Manuel Targovnik and Cintia E Citterio and Carina Maria Rivolta},
  journal={Hormone research in paediatrics},
  volume={75 5},
Human thyroglobulin (TG) gene is a single copy gene, 270 kb long, that maps on chromosome 8q24.2-8q24.3 and contains an 8.5-kb coding sequence divided into 48 exons. TG is exclusively synthesized in the thyroid gland and represents a highly specialized homodimeric glycoprotein for thyroid hormone biosynthesis. Mutations in the TG gene lead to permanent congenital hypothyroidism. The presence of low TG level and also normal perchlorate discharge test in a goitrous individual suggest a TG gene… CONTINUE READING


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