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

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 (c.1498 C?>?T; p.Gln500Ter) in two siblings with congenital goitrous hypothyroidism. The mutated SLC26A7 protein shows an abnormal cytoplasmic localisation and lacks the iodide transport function. These results reveal that SLC26A7 functions as a novel iodide transporter in the thyroid and its dysfunction affects thyroid hormonogenesis in humans and causes congenital goitrous hypothyroidism.