hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...