Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism

• TAJIMA Toshihiro

  Department of Pediatrics, Hokkaido University School of Medicine

• TSUBAKI Junko

  Department of Pediatrics, Hokkaido University School of Medicine

• FUJIEDA Kenji

  Department of Pediatrics, Asahikawa Medical College

抄録

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.<br>

収録刊行物

• Endocrine Journal

  Endocrine Journal 52 (5), 643-645, 2005

  一般社団法人 日本内分泌学会

キーワード

• Goitrous hypothyroidism
• Thyroid peroxidase gene
• TPO
• iodide organification defect

詳細情報

• CRID: 1390001206300585984
• NII論文ID: 130004443179
• NII論文ID: 10016782539
• NII書誌ID: AA10901436
• DOI: 10.1507/endocrj.52.643
• ISSN: 13484540
• ISSN: 09188959
• Web Site: http://www.jstage.jst.go.jp/article/endocrj/52/5/52_5_643/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2006219946
• 本文言語コード: en
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