Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
نویسندگان
چکیده
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.
منابع مشابه
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
OBJECTIVE Thyroid peroxidase (TPO) deficiency is one of the causes of thyroid dyshormonogenesis, because TPO plays a key role in thyroid hormone biosynthesis. To determine the frequency and pattern of TPO abnormalities, we have been screening TPO genes of patients with congenital goitrous hypothyroidism. SUBJECTS AND METHODS TPO genes of a patient with congenital goitrous hypothyroidism and h...
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OBJECTIVES To investigate thyroid peroxidase gene (TPO) mutations in a Chinese siblings with congenital goitrous hypothyroidism (CGH). SUBJECTS AND METHODS The proband, his sister, and their parents were enrolled. All subjects underwent clinical examination and laboratory tests. Mutation screening of the TPO gene was performed by sequencing fragments amplified from extracted genomic DNA. RE...
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عنوان ژورنال:
- Endocrine journal
دوره 52 5 شماره
صفحات -
تاریخ انتشار 2005