Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism

Toshihiro TAJIMA, Junko TSUBAKI, Kenji FUJIEDA
2005 Endocrine journal  
We encountered a Japanese patient with goitrous hypothyroidism due to iodide organification defect in the thyroid gland. Sequence analysis identified two novel mutations (E378K in exon 8 and a heterozygous 10 base deletion of the intron 15-exon 16 boundary) in the thyroid peroxidase (TPO) gene. As individuals with goitrous hypothyroidism caused by TPO gene mutation develop thyroid cancer, regular and careful follow-up for such patients must be done.
doi:10.1507/endocrj.52.643 pmid:16284446 fatcat:rjyelt6qfzgb7cvrwaxnzvhxde