Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.

ABSTRACT:

Background

Congenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-function variants in the sodium/iodide symporter (NIS)-coding SLC5A5 gene.

Objective

We aimed to identify, and if so to functionally characterize, novel ITD-causing SLC5A5 gene variants in a cohort of five unrelated pediatric patients diagnosed with dyshormonogenic congenital hypothyroidism with minimal to absent ^99mTc-pertechnetate accumulation in the thyroid gland.

Methods

The coding region of the SLC5A5 gene was sequenced using Sanger sequencing. In silico analysis and functi

SUBMITTER: Geysels RC 

PROVIDER: S-EPMC9114739 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature