Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
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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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1557-9077
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Wellcome Trust (219496/Z/19/Z)
Wellcome Trust (095564/Z/11/Z)
Medical Research Council (MC_UU_12012/5)
Medical Research Council (MR/S005552/1)
Wellcome Trust (208363/Z/17/Z)
MRC (MC_UU_00014/5)
Medical Research Council (MC_PC_12012)