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

被引：3

作者：

Mori, Jun ^{[1
,2
]}

Hasegawa, Tatsuji ^{[1
]}

Miyamoto, Yosuke ^{[1
]}

Kitamura, Kazumasa ^{[1
]}

Morimoto, Hidechika ^{[1
]}

Tozawa, Takenori ^{[1
]}

Pooh, Ritsuko Kimata ^{[3
,4
]}

Chiyonobu, Tomohiro ^{[1
,5
]}

机构：

[1] Kyoto Prefectural Univ Med, Dept Pediat, Kyoto, Japan

[2] Osaka City Gen Hosp, Div Pediat Endocrinol & Metab, Childrens Med Ctr, Osaka, Japan

[3] Fetal Brain Ctr, Fetal Diagnost Ctr, CRIFM Prenatal Med Clin, Osaka, Japan

[4] Ritz Med Co Ltd, Clin Lab, Osaka, Japan

[5] Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Mol Diagnost & Therapeut, Kyoto, Japan

来源：

HUMAN GENOME VARIATION | 2022年 / 9卷 / 01期

关键词：

CONGENITAL HYPOTHYROIDISM; MUTATIONS;

D O I：

10.1038/s41439-022-00197-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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