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Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.

Journal of genetics and genomics = Yi chuan xue bao - 1 Oct 2025

Huang Yan, Xiang Zhenglong, Xiang Yaqin, Pan Hu, He Mei, Guo Zhenming, Kanca Oguz, Liu Chen, Zhang Zhao, Zhan Huaizhe, Wang Yuan, Bai Qing-Ran, Bellen Hugo J, Wang Hua, Bian Shan, Mao Xiao

Abstract excerpt

Mediator Complex Subunit 16 (MED16, MIM: 604062) is a member of the Mediator complex, which controls many aspects of transcriptional activity in all eukaryotes. Here, we report two individuals from a non-consanguineous family with biallelic variants in MED16 identified by exome sequencing. The affected individuals present with global developmental delay, intellectual disability, and dysmorphisms. To assess the...

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PMID: 40254158
DOI: 10.1016/j.jgg.2025.04.004

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MED16

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