Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new form of thyroid dyshormonogenesis. All patients were detected by neonatal screening, presenting with moderate to severe congenital...