title: Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tajima
authors.forename: Junko
authors.initials: J
authors.lastname: Tsubaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000235:genetics*; D017353:Gene Deletion; D006042:Goiter / Q000151:congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007453:Iodide Peroxidase / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense
chemical_list: D007453:Iodide Peroxidase