Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.

ABSTRACT:

Context

Iodide (I(-)), an essential constituent of the thyroid hormones, is actively accumulated in the thyroid by the Na(+)/I(-) symporter (NIS), a key plasma membrane protein encoded by the slc5a5 gene. Mutations in slc5a5 cause I(-) transport defects (ITDs), autosomal-recessive disorders in which I(-) accumulation is totally or partially impaired, leading to congenital hypothyroidism. The characterization of NIS mutants has yielded significant insights into the molecular mechanism of NIS.

Objective

This study aimed to determine the basis of a patient's ITD clinical phenotype, by sequencing her slc5a5 gene.

Design

Genomic DNA was purified and the slc5a5 gene sequence determined. Functional in vitro studies were performed to characterize the V270E NIS mutant.

Pati

SUBMITTER: Nicola JP 

PROVIDER: S-EPMC4596044 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature