Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
Mary Ann Liebert
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Schoenmakers, N., Durgia, H., Nicholas, A., Schoenmakers, E., Dickens, J., Halanaik, D., Sahoo, J., & et al. Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.. Thyroid https://doi.org/10.17863/CAM.76715
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.
Wellcome Trust (100574/Z/12/Z)
Wellcome Trust (219496/Z/19/Z)
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This record's DOI: https://doi.org/10.17863/CAM.76715
This record's URL: https://www.repository.cam.ac.uk/handle/1810/329265
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Licence URL: https://creativecommons.org/licenses/by/4.0/