Silent but not harmless: A synonymous SLC5A5 gene variant leading to dyshormonogenic congenital hypothyroidism

GEYSELS, RC; BERNAL BARQUERO, CE; MARTIN, M; PEYRET, V; SOBRERO, G; MUÑOZ, L; SIGNORINO, M; TESTA, G; CASTRO, RB; MASINI-REPISO AM; MIRAS, M; NICOLA, JP

FRONTIERS IN ENDOCRINOLOGY

Frontiers Media

Año: 2022

1664-2392

b style="">Background: Congenital iodide transportdefect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidismcharacterized by the absence of active iodide accumulation in the thyroidgland. ITD is an autosomal recessive disorder caused by loss-of-functionvariants in the sodium iodide symporter (NIS)-coding SLC5A5 gene. Objective: We aimed to identify, and if soto functionally characterize, novel ITD-causing SLC5A5 gene variants in a cohort of five unrelated pediatricpatients diagnosed with dyshormonogenic congenital hypothyroidism with minimalto absent 99mTc-pertechnetate accumulation in the thyroid gland. Methods: The coding region of the SLC5A5 gene was sequenced using Sangersequencing. In