Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.

@article{Hishinuma1998MissenseM,
  title={Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.},
  author={Akira Hishinuma and Koji Kasai and Nobuhide Masawa and Yuri Kanno and Maiko Arimura and S I Shimoda and Tamio Ieiri},
  journal={Endocrine journal},
  year={1998},
  volume={45 3},
  pages={315-27}
}
Metabolic abnormalities in thyroid hormonogenesis cause congenital goiter. Here we studied a case of mild hypothyroidism caused by a novel missense mutation in the thyroglobulin (TG) gene. A female patient underwent thyroidectomy twice at the age of 27 and 43 years because of gradual enlargement of the thyroid. By RNase cleavage assay and PCR direct sequencing we identified a thymine to cytosine transition at nucleotide 3828 (from the transcription start site) which causes amino acid change… CONTINUE READING