Related Experiment Video
Updated: Sep 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical
Jun Mori1,2, Tatsuji Hasegawa3, Yosuke Miyamoto3
1Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. jun1113@koto.kpu-m.ac.jp.
Abstract:
The molecular mechanisms involved in thyroid organogenesis have not been fully elucidated. We report a patient with a de novo germline AKT3 variant, NM_005465.7:c.233A > G, p.(Gln78Arg), who presented with congenital hypothyroidism in addition to typical AKT3-related brain disorders. The report of this patient contributes to delineating the associated yet uncertain endocrine complications of this AKT3 disease-causing variant.
More Related Videos
Related Concept Videos
Synthesis and Regulation of Thyroid Hormones
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
Functions of Thyroid Hormones
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
Teratogenicity
The Thyroid Gland
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
PI3K/mTOR/AKT Signaling Pathway

