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Article

Two Novel SLC5A5 Variants (Q263L and G350D) Causing Congenital Hypothyroidism.

Thyroid : official journal of the American Thyroid Association - 1 Mar 2025

Abe Kiyomi, Koizumi Mikiko, Kogai Takahiko, Ida Shinobu, Sugisawa Chiho, Kawai Masanobu, Hasegawa Tomonobu, Narumi Satoshi

Abstract excerpt

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...

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Identifiers

PMID: 39895319
DOI: 10.1089/thy.2024.0716

Genes

SLC5A5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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