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Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
- Source :
-
Thyroid : official journal of the American Thyroid Association [Thyroid] 2022 Feb; Vol. 32 (2), pp. 215-218. - Publication Year :
- 2022
-
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.
Details
- Language :
- English
- ISSN :
- 1557-9077
- Volume :
- 32
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Thyroid : official journal of the American Thyroid Association
- Publication Type :
- Academic Journal
- Accession number :
- 34806438
- Full Text :
- https://doi.org/10.1089/thy.2021.0478