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

Jun Mori; Tatsuji Hasegawa; Yosuke Miyamoto; Kazumasa Kitamura; Hidechika Morimoto; Takenori Tozawa; Ritsuko Kimata Pooh; Tomohiro Chiyonobu

doi:10.1038/s41439-022-00197-7

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

Hum Genome Var. 2022 Jun 3;9(1):18. doi: 10.1038/s41439-022-00197-7.

Authors

Jun Mori^{1

2}, Tatsuji Hasegawa³, Yosuke Miyamoto³, Kazumasa Kitamura³, Hidechika Morimoto³, Takenori Tozawa³, Ritsuko Kimata Pooh^{4

5}, Tomohiro Chiyonobu^{3

6}

Affiliations

¹ Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. jun1113@koto.kpu-m.ac.jp.
² Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan. jun1113@koto.kpu-m.ac.jp.
³ Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁴ Fetal Brain Center, Fetal Diagnostic Center, CRIFM Prenatal Medical Clinic, Osaka, Japan.
⁵ Clinical Laboratory, Ritz Medical Co., Ltd., Osaka, Japan.
⁶ Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

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.