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Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.

Clinical endocrinology - 1 Apr 2012

Belforte Fiorella S, Miras Mirta B, Olcese María C, Sobrero Gabriela, Testa Graciela, Muñoz Liliana, Gruñeiro-Papendieck Laura, Chiesa Ana, González-Sarmiento Rogelio, Targovnik Héctor M, Rivolta Carina M

Abstract excerpt

BACKGROUND: Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide resulting in hypothyroidism. Mutations in thyroid peroxidase (TPO) gene appear to be the most common cause of IOD and are commonly inherited in an autosomal recessive fashion. The TPO gene is located on the chromosome 2p25. It comprises 17 exons, covers approximately 150 kb of genomic DNA and...

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PMID: 21981063
DOI: 10.1111/j.1365-2265.2011.04249.x

Genes

TPO

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