Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-06-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00197-7 |
| _version_ | 1818202664253521920 |
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| author | Jun Mori Tatsuji Hasegawa Yosuke Miyamoto Kazumasa Kitamura Hidechika Morimoto Takenori Tozawa Ritsuko Kimata Pooh Tomohiro Chiyonobu |
| author_facet | Jun Mori Tatsuji Hasegawa Yosuke Miyamoto Kazumasa Kitamura Hidechika Morimoto Takenori Tozawa Ritsuko Kimata Pooh Tomohiro Chiyonobu |
| author_sort | Jun Mori |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T03:13:02Z |
| format | Article |
| id | doaj.art-573b0eba52544cbdbb015a4a650690f4 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-12T03:13:02Z |
| publishDate | 2022-06-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-573b0eba52544cbdbb015a4a650690f42022-12-22T00:40:20ZengNature Publishing GroupHuman Genome Variation2054-345X2022-06-01911410.1038/s41439-022-00197-7Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformationJun Mori0Tatsuji Hasegawa1Yosuke Miyamoto2Kazumasa Kitamura3Hidechika Morimoto4Takenori Tozawa5Ritsuko Kimata Pooh6Tomohiro Chiyonobu7Department of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Kyoto Prefectural University of MedicineFetal Brain Center, Fetal Diagnostic Center, CRIFM Prenatal Medical ClinicDepartment of Pediatrics, Kyoto Prefectural University of MedicineAbstract 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.https://doi.org/10.1038/s41439-022-00197-7 |
| spellingShingle | Jun Mori Tatsuji Hasegawa Yosuke Miyamoto Kazumasa Kitamura Hidechika Morimoto Takenori Tozawa Ritsuko Kimata Pooh Tomohiro Chiyonobu Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation Human Genome Variation |
| title | Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation |
| title_full | Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation |
| title_fullStr | Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation |
| title_full_unstemmed | Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation |
| title_short | Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation |
| title_sort | thyroid hypogenesis is associated with a novel akt3 germline variant that causes megalencephaly and cortical malformation |
| url | https://doi.org/10.1038/s41439-022-00197-7 |
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