A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.

ABSTRACT:

Context

Iodide transport defect (ITD) (Online Mendelian Inheritance in Man No. 274400) is an uncommon cause of dyshormonogenic congenital hypothyroidism due to loss-of-function variants in the SLC5A5 gene, which encodes the sodium/iodide symporter (NIS), causing deficient iodide accumulation in thyroid follicular cells.

Objective

This work aims to determine the molecular basis of a patient's ITD clinical phenotype.

Methods

The propositus was diagnosed with dyshormonogenic congenital hypothyroidism with minimal 99mTc-pertechnetate accumulation in a eutopic thyroid gland. The propositus SLC5A5 gene was sequenced. Functional in vitro characterization of the novel NIS variant was performed.

Results

Sanger sequencing revealed a novel homozygous missense p.G561E NIS

SUBMITTER: Martin M 

PROVIDER: S-EPMC8208674 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature