Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epilepsy.

doi:10.1016/j.gim.2025.101668

Article

Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2026

Wei Yuda, Liu Kai, Mi Changrui, Yu Jing, Sun Ruopeng, Miao Shengxing, Li Haiqi, Xue Huili, Liu Xiaxia, Hu Yanyan, Qi Yongzhen, Zhang Jie, Tong Lili, Zhao Chen, Jiang Liangqian, Teng Juan, Geng Xingzhu, Gai Chengcheng, Xu Hongyan, Li Lin, Che Fengyuan, Gao Chunhai, Zhao Xiangyu

Abstract excerpt

PURPOSE: Approximately 6% of individuals with neurodevelopmental disorders are predicted to be X-linked, and the GSPT2 gene, located at Xp11.22, has not yet been associated with any Mendelian disease. METHODS: To establish genotype-phenotype associations between GSPT2 and neurodevelopmental disorders, clinical investigations were performed in unrelated individuals, genomic and functional studies were conducted on...

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Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epilepsy.

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