1. Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
- Author
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Durgia H, Nicholas AK, Schoenmakers E, Dickens JA, Halanaik D, Sahoo J, Kamalanathan S, and Schoenmakers N
- Subjects
- Female, Humans, India, Infant, Newborn, Congenital Hypothyroidism genetics, Mutation genetics, Symporters genetics
- 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.
- Published
- 2022
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