Open AccessBrief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism
Author(s) -
Harsh Durgia,
Adeline K Nicholas,
Erik Schoenmakers,
Jennifer A. Dickens,
Dhanapathi Halanaik,
Jayaprakash Sahoo,
Sadishkumar Kamalanathan,
Nadia Schoenmakers
Publication year - 2022
Publication title -
thyroid
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.918
H-Index - 142
eISSN - 1557-9077
pISSN - 1050-7256
DOI - 10.1089/thy.2021.0478
Subject(s) - sodium iodide symporter , symporter , medicine , endocrinology , thyroid , congenital hypothyroidism , iodide , pendrin , follicular cell , mutation , chemistry , biochemistry , gene , transporter , organic chemistry
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.