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Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

Clinical endocrinology - 1 Aug 2003

Kotani Tomio, Umeki Kazumi, Kawano Jun-ichi, Suganuma Tatsuo, Hishinuma Akira, Ieiri Tamio, Harada Shohei

Abstract excerpt

BACKGROUND: Three siblings with goitre and latent to mild hypothyroidism were suspected of having thyroid peroxidase (TPO) abnormality. Direct sequencing of their genomic DNAs showed two novel mutations of the TPO gene, one of which was G1687T (Gly533Cys; exon 9) and the other 1808-13del (Asp574/Leu575del; exon 10). The two mutations were compound heterozygous, as the former was found in their father's DNA as...

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PMID: 12864797
DOI: 10.1046/j.1365-2265.2003.01823.x

Genes

TPO

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