Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect

Congenital iodide transport defect is an uncommon autosomal recessive disorder caused by loss-of-function variants in the sodium iodide symporter (NIS)-coding <i>SLC5A5</i> gene and leading to dyshormonogenic congenital hypothyroidism. Here, we conducted a targeted next-generation sequen...

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Bibliographic Details
Main Authors: Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro, Mariano Martín, Victoria Peyret, María Celeste Abregú, Patricia Papendieck, Ana María Masini-Repiso, Frédérique Savagner, Ana Elena Chiesa, Cintia E. Citterio, Juan Pablo Nicola
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:International Journal of Molecular Sciences
Subjects:
congenital hypothyroidism
thyroid dyshormonogenesis
iodide transport defect
sodium iodide symporter
thyroglobulin
Online Access:https://www.mdpi.com/1422-0067/23/16/9251

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https://www.mdpi.com/1422-0067/23/16/9251

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