{"title":"Two Novel <i>SLC5A5</i> Variants (Q263L and G350D) Causing Congenital Hypothyroidism.","authors":"Kiyomi Abe, Mikiko Koizumi, Takahiko Kogai, Shinobu Ida, Chiho Sugisawa, Masanobu Kawai, Tomonobu Hasegawa, Satoshi Narumi","doi":"10.1089/thy.2024.0716","DOIUrl":null,"url":null,"abstract":"<p><p><i>SLC5A5</i> encodes sodium-iodide symporter (NIS), which transports inorganic iodide into thyroid cells. Biallelic loss-of-function variants in <i>SLC5A5</i> cause thyroid dyshormonogenesis due to iodide transport defect (ITD). We report a Japanese sibling with ITD carrying novel compound heterozygous <i>SLC5A5</i> variants (p. [Gln263Leu]; [Gly350Asp]). The elder brother was diagnosed with congenital hypothyroidism (CH) through newborn screening (NBS), while the younger brother, with a negative NBS result, developed CH-related symptoms at age 3 months. We characterized the two variant NIS proteins <i>in vitro</i> and negligible iodide transport capacity of both proteins. These findings provide unique evidence for the structure-function relationship of the NIS protein.</p>","PeriodicalId":23016,"journal":{"name":"Thyroid","volume":" ","pages":""},"PeriodicalIF":5.8000,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Thyroid","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1089/thy.2024.0716","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
SLC5A5 encodes sodium-iodide symporter (NIS), which transports inorganic iodide into thyroid cells. Biallelic loss-of-function variants in SLC5A5 cause thyroid dyshormonogenesis due to iodide transport defect (ITD). We report a Japanese sibling with ITD carrying novel compound heterozygous SLC5A5 variants (p. [Gln263Leu]; [Gly350Asp]). The elder brother was diagnosed with congenital hypothyroidism (CH) through newborn screening (NBS), while the younger brother, with a negative NBS result, developed CH-related symptoms at age 3 months. We characterized the two variant NIS proteins in vitro and negligible iodide transport capacity of both proteins. These findings provide unique evidence for the structure-function relationship of the NIS protein.
期刊介绍：
This authoritative journal program, including the monthly flagship journal Thyroid, Clinical Thyroidology® (monthly), and VideoEndocrinology™ (quarterly), delivers in-depth coverage on topics from clinical application and primary care, to the latest advances in diagnostic imaging and surgical techniques and technologies, designed to optimize patient care and outcomes.
Thyroid is the leading, peer-reviewed resource for original articles, patient-focused reports, and translational research on thyroid cancer and all thyroid related diseases. The Journal delivers the latest findings on topics from primary care to clinical application, and is the exclusive source for the authoritative and updated American Thyroid Association (ATA) Guidelines for Managing Thyroid Disease.
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