Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Abstract
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...
Paper Details
Title
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Published Date
Oct 18, 2018
Journal
Volume
3
Issue
20
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