Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis.

ABSTRACT:

Purpose

Congenital hypothyroidism (CH) is a common congenital endocrine disorder in humans. CH-related diseases such as athyreosis, thyroid ectopy, and hypoplasia are primarily caused by dysgenic thyroid development. However, the underlying molecular mechanisms remain unknown.

Methods

To identify novel CH candidate genes, 192 CH patients were enrolled, and target sequencing of 21 known CH-related genes was performed. The remaining 98 CH patients carrying no known genes were subjected to exome sequencing (ES). The functions of the identified variants were confirmed using thyroid epithelial cells in vitro and in zebrafish model organisms in vivo.

Results

Four pathogenic GBP1 variations from three patients were identified. In zebrafish embryos, gbp1 knockdown caused defe

SUBMITTER: Yang RM 

PROVIDER: S-EPMC8486662 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature