Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation

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 o...

Descripción completa

Detalles Bibliográficos
Autores principales: Mori, Jun, Hasegawa, Tatsuji, Miyamoto, Yosuke, Kitamura, Kazumasa, Morimoto, Hidechika, Tozawa, Takenori, Pooh, Ritsuko Kimata, Chiyonobu, Tomohiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166760/
https://www.ncbi.nlm.nih.gov/pubmed/35665751
http://dx.doi.org/10.1038/s41439-022-00197-7
Descripción
Sumario: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.

Ejemplares similares