Human Genome Variation (Jun 2022)

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
https://doi.org/10.1038/s41439-022-00197-7
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 4

Abstract

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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.