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

被引：5

作者：

Hermanns, Pia ^{[1
]}

Classen, Charlotte ^{[1
]}

Pohlenz, Joachim ^{[1
]}

机构：

[1] Johannes Gutenberg Univ Mainz, Childrens Hosp, Dept Mol Pediat Endocrinol, Langenbeckstr 1, D-55101 Mainz, Germany

来源：

THYROID | 2020年 / 30卷 / 12期

关键词：

thyroid hormone synthesis; congenital goitrous hypothyroidism;

D O I：

10.1089/thy.2020.0293

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 silicostudies predict the mutation to be pathogenic.

引用

页码：1831 / 1833

页数：3

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