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Article

Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.

Thyroid : official journal of the American Thyroid Association - 1 Feb 2022

Durgia Harsh, Nicholas Adeline K, Schoenmakers Erik, Dickens Jennifer A, Halanaik Dhanapathi, Sahoo Jayaprakash, Kamalanathan Sadishkumar, Schoenmakers Nadia

Abstract excerpt

The sodium-iodide symporter (NIS, SLC5A5) is expressed at the basolateral membrane of the thyroid follicular cell, and facilitates the thyroidal iodide uptake required for thyroid hormone biosynthesis. Biallelic loss-of-function mutations in NIS are a rare cause of dyshormonogenic congenital hypothyroidism. Affected individuals typically exhibit a normally sited, often goitrous thyroid gland, with absent uptake...

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Identifiers

PMID: 34806438
DOI: 10.1089/thy.2021.0478
PMCID: PMC8861941

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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