Bi-allelic <i>GSPT1</i> variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly

Kai Liu; Yuda Wei; Yanyan Hu; Xingzhu Geng; Xiaxia Liu; Hongyan Xu; Yikai Miao; Yongzhen Xue; Chunhai Gao; Xiangyu Zhao

doi:10.1016/j.jgg.2026.02.019

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Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly

doi: 10.1016/j.jgg.2026.02.019

a. Department of Medical Genetics, Linyi People’s Hospital, Shandong Second Medical University, Linyi, Shandong 276000, China;
b. Department of Pediatrics, Linyi People’s Hospital, Shandong Second Medical University, Linyi, Shandong 276000, China;
c. Postgraduate Training Base of Guangzhou University of Chinese Medicine, Linyi People’s Hospital, Linyi, Shandong 276000, China;
d. Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People’s Hospital, Shandong Second Medical University, Linyi, Shandong 276000, China

Funds:

China Postdoctoral Science Foundation (2024M751889)

and Taishan Scholar Young Expert Program of Shandong Province (tsqn202507393).

We sincerely thank the family for their participation and support in this study. This work was supported by the National Natural Science Foundation of China (82402155, 32200629)

Natural Science Foundation of Shandong Province (ZR2021QC196, ZR2021QH268)

Received Date: 2025-05-23
Accepted Date: 2026-02-24
Rev Recd Date: 2026-02-11

Available Online: 2026-03-04

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