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

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

doi:10.1089/thy.2021.0478

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

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

^*Corresponding author for this work

Metabolism and Systems Science

Research output: Contribution to journal › Article › peer-review

Abstract

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 of radioiodine in the thyroid and other NIS-expressing tissues. We report a novel homozygous NIS mutation (c.1067 C>T, p.S356F) in four siblings from a consanguineous Indian kindred, presenting with significant hypothyroidism. Functional characterization of the mutant protein demonstrated impaired plasma membrane localization and cellular iodide transport.

Original language	English
Pages (from-to)	215-218
Number of pages	4
Journal	Thyroid
Volume	32
Issue number	2
Early online date	22 Nov 2021
DOIs	https://doi.org/10.1089/thy.2021.0478
Publication status	Published - Feb 2022

Bibliographical note

Copyright:
© Harsh Durgia et al. 2022; Published by Mary Ann Liebert, Inc.

Keywords

congenital hypothyroidism
dyshormonogenesis
iodide transport
SLC5A5

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1089/thy.2021.0478Licence: Creative Commons: Attribution (CC BY)

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title = "Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism",

abstract = "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 of radioiodine in the thyroid and other NIS-expressing tissues. We report a novel homozygous NIS mutation (c.1067 C>T, p.S356F) in four siblings from a consanguineous Indian kindred, presenting with significant hypothyroidism. Functional characterization of the mutant protein demonstrated impaired plasma membrane localization and cellular iodide transport.",

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doi = "10.1089/thy.2021.0478",

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AU - Nicholas, Adeline K.

AU - Schoenmakers, Erik

AU - Dickens, Jennifer A.

AU - Halanaik, Dhanapathi

AU - Sahoo, Jayaprakash

AU - Kamalanathan, Sadishkumar

AU - Schoenmakers, Nadia

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AB - 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 of radioiodine in the thyroid and other NIS-expressing tissues. We report a novel homozygous NIS mutation (c.1067 C>T, p.S356F) in four siblings from a consanguineous Indian kindred, presenting with significant hypothyroidism. Functional characterization of the mutant protein demonstrated impaired plasma membrane localization and cellular iodide transport.

KW - congenital hypothyroidism

KW - dyshormonogenesis

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

UN SDGs

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