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Article

A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.

Thyroid : official journal of the American Thyroid Association - 1 Dec 2020

Hermanns Pia, Claßen Charlotte, Pohlenz Joachim

Abstract excerpt

We investigated the genetic cause of thyroid dyshormonogenesis in a girl with congenital hypothyroidism. Genetic analysis showed that she was homozygous for a hitherto not described mutation (c.1432_1433delGT, p.V478KfsX11) in the solute carrier family 26 member 7 (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...

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PMID: 32486989
DOI: 10.1089/thy.2020.0293

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