Ontology highlight
ABSTRACT:
SUBMITTER: Cangul H
PROVIDER: S-EPMC6237461 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
JCI insight 20181018 20
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodin ...[more]