Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism

Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism

IntroductionThe sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Biallelic loss-of-function variants in the NIS-coding SLC5A5 gene cause congenital dyshormonogenic hypothyroidism due to a defect in the accumulation of iodide, which is required for thy...

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Main Authors: Gerardo Hernán Carro, Mariano Martín, Sofía Savy, Victoria Peyret, Romina Celeste Geysels, Francisco Andrés Montes, Carlos Eduardo Bernal Barquero, Valentina Ricci, María Eugenia Masnata, Ana María Masini-Repiso, Patricia Papendieck, Mariana Lorena Tellechea, Ana Elena Chiesa, Juan Pablo Nicola
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Endocrinology
Subjects:
congenital hypothyroidism
iodide transport defect
sodium iodide symporter (NIS)
whole-exome sequencing
biallelic loss-of-function SLC5A5 variants
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1465176/full
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