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RESEARCH PRODUCT

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

Pia HermannsJoachim PohlenzCharlotte Claßen

subject

GeneticsEndocrinology Diabetes and MetabolismThyroid030209 endocrinology & metabolismBiologymedicine.diseaseGenetic analysisCongenital hypothyroidismFrameshift mutationSolute carrier family03 medical and health sciences0302 clinical medicineEndocrinologymedicine.anatomical_structureThyroid dyshormonogenesis030220 oncology & carcinogenesisMutation (genetic algorithm)medicineGene

description

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 predicted protein is truncated and very likely to be nonfunctional if it was expressed at all. In addition, in silico studies predict the mutation to be pathogenic.

yearjournalcountryeditionlanguage
2020-12-01Thyroid
https://doi.org/10.1089/thy.2020.0293