A novel homozygous mutation in the Solute Carrier Family 26 Member 7 (SLC26A7) gene causes thyroid dyshormonogenesis in a girl with congenital hypothyroidism.

We investigated the genetic cause of thyroid dyshormonogenesis in a girl with congenital hypothyroidism. Genetic analysis showed that she is homozygous for a hitherto not described mutation (c.1431_1432delGT, p.V478KfsX11) in the SLC26A7 gene. SLC26A7 is proposed to be an anion transporter in the thyroid gland. The mutation leads to a frameshift and a premature stop codon. The predicted protein is truncated and very likely to be non functional if it was expressed at all. In addition, in silico studies predict the mutation to be pathogenic.