Article
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
The Journal of clinical investigation - 3 Oct 2022
Chen Guodong, Yu Bin, Tan Senwei, Tan Jieqiong, Jia Xiangbin, Zhang Qiumeng, Zhang Xiaolei, Jiang Qian, Hua Yue, Han Yaoling, Luo Shengjie, Hoekzema Kendra, Bernier Raphael A, Earl Rachel K, Kurtz-Nelson Evangeline C, Idleburg Michaela J, Madan-Khetarpal Suneeta, Clark Rebecca, Sebastian Jessica, Fernandez-Jaen Alberto, Alvarez Sara, King Staci D, Ramos Luiza Lp, Santos Mara Lucia Sf, Martin Donna M, Brooks Dan, Symonds Joseph D, Cutcutache Ioana, Pan Qian, Hu Zhengmao, Yuan Ling, Eichler Evan E, Xia Kun, Guo Hui
Abstract excerpt
Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. An excess of likely gene-disruptive (LGD) mutations in GIGYF1 was implicated in ASD. Here, we report that GIGYF1 is the second-most mutated gene among known ASD high-confidence risk genes. We investigated the inheritance of 46 GIGYF1 LGD variants, including the highly recurrent mutation...
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