Department of Molecular Pediatric Endocrinology, Johannes Gutenberg University of Mainz, Children's Hospital, Mainz, Germany.
Thyroid. 2020 Dec;30(12):1831-1833. doi: 10.1089/thy.2020.0293. Epub 2020 Jul 16.
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 () 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, studies predict the mutation to be pathogenic.
我们研究了一名先天性甲状腺功能减退症女孩甲状腺激素生物合成障碍的遗传原因。基因分析表明，她在溶质载体家族 26 成员 7（SLC26A7）基因中纯合了一个迄今尚未描述的突变（c.1432_1433delGT，p.V478KfsX11）。SLC26A7 被认为是甲状腺中的一种阴离子转运体。该突变导致移码和提前终止密码子。如果该蛋白被表达，那么预测的截短蛋白很可能没有功能。此外，研究预测该突变是致病性的。
