Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene

FIORELLA S. BELFORTE, MIRTA B. MIRAS, MARÍA C. OLCESE, GABRIELA SOBRERO, GRACIELA TESTA, LILIANA MUÑOZ, LAURA GRUÑEIRO-PAPENDIECK, ANA CHIESA, ROGELIO GONZÁLEZ-SARMIENTO, HÉCTOR M. TARGOVNIK AND CARINA M. RIVOLTA

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2012 vol. 76 p. 568 - 568

ummary 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 approximately150 kbofgenomicDNAandcodes933aminoacids. Objetives In this study, we characterize the clinical and molecular basis of seven patients from four unrelated families with congenital hypothyroidism (CH) because of IOD. Design and Methods All patients underwent clinical, biochemi- cal and imaging evaluation. The promoter and the complete coding regions of the human TPO along with the flanking intronic regions were analysed by single-strand conformation polymorphism analy- sis and direct DNA sequencing. Segregation analysis of mutations was carried out, and the effect of the novel missense