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Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.

Commun Biol. 2019-01; 
IshiiJun,SuzukiAtsushi,KimuraToru,TateyamaMichihiro,TanakaTatsushi,YazawaTakuya,ArimasuYu,ChenI-Shan,AoyamaKohei,KuboYoshihiro,SaitohShinji,MizunoHaruo,KammaHir
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摘要

Iodide transport and storage in the thyroid follicles is crucial for thyroid hormone synthesis. Pendrin, the iodide exporter that transports iodide to thyroid follicles, is responsible for Pendred syndrome, a disorder characterized by congenital hypothyroidism and hearing loss. However, thyroid hormone levels are basically normal in patients with Pendred syndrome, indicating the presence of another unknown iodide transporter. Here, we show that SLC26A7 is a novel iodide transporter in the thyroid. We observe that SLC26A7 is specifically expressed in normal thyroid tissues and demonstrate its function in iodide transport. Using whole-exome sequencing, we also find a homozygous nonsense mutation in ... More

关键词

Cell biology,Endocrinology,Genetics,Pathogen