ANALYSIS OF THREE NOVEL MUTATIONS INTO THYROGLOBULIN GENE ASSOCIATED WITH GOITER AND HYPOTHYROIDISM

SOFIA SIFFO; CINTIA CITTERIO; EZEQUIELA ADROVER; HECTOR TARGOVNIK

Mar del plata

Congreso; LXI reunión científica anual de la sociedad de investigación clínica; 2016

SAIC

Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from euthyroid to mild or severe hypothyroidism. The majority of patients have congenital goiter or goiter appearing shortly after birth.Human TG gene is a single copy gene, 270 kb long which maps on chromosome 8q24 and contains an 8.5-kb coding sequence divided into 48 exons. Up to now, 62 inactivating mutations in the TG gene have been identified in patients with congenital goiter.