Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism
| Autor: | Harsh Durgia, Sadishkumar Kamalanathan, Erik Schoenmakers, Dhanapathi Halanaik, Jennifer A. Dickens, Jayaprakash Sahoo, Adeline K Nicholas, Nadia Schoenmakers |
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| Přispěvatelé: | Sahoo, Jayaprakash [0000-0002-8805-143X], Apollo - University of Cambridge Repository |
| Rok vydání: | 2022 |
| Předmět: |
Sodium-iodide symporter
endocrine system medicine.medical_specialty dyshormonogenesis iodide transport endocrine system diseases Endocrinology Diabetes and Metabolism India medicine.disease_cause Follicular cell SLC5A5 Endocrinology Mutant protein Internal medicine Congenital Hypothyroidism medicine Humans Iodide transport health care economics and organizations Mutation Symporters business.industry Thyroid Infant Newborn medicine.disease Congenital hypothyroidism medicine.anatomical_structure Symporter Female business |
| Zdroj: | Thyroid. 32:215-218 |
| ISSN: | 1557-9077 1050-7256 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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