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

doi: 10.1016/j.jgg.2025.04.004

• Yan Huang ^a , 
• Zhenglong Xiang ^b , 
• Yaqin Xiang ^c , 
• Hu Pan ^d , 
• Mei He ^d , 
• Zhenming Guo ^b , 
• Oguz Kanca ^e,f , 
• Chen Liu ^g , 
• Zhao Zhang ^a , 
• Huaizhe Zhan ^b , 
• Yuan Wang ^b , 
• Qing-Ran Bai ^h , 
• Hugo J. Bellen ^e,f , 
• Hua Wang ^c , 
• Shan Bian ^b,d,i     , 
• Xiao Mao ^d,j    

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  a. Department of Medical Genetics & Pediatric Research Institute, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, (Hunan Children's Hospital), Changsha, Hunan 410007, China;

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  b. Institute for Regenerative Medicine, State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai 200120, China;

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  c. Department of Medical Genetics, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, (Hunan Children's Hospital), Changsha, Hunan 410007, China;

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  d. National Health Commission Key Laboratory of Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, University of South China, Changsha, Hunan 410008, China;

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  e. Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA;

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  f. Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA;

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  g. Neonatology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China;

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  h. Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Orthopaedic Department of Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, China;

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  i. China Regional Research Center, International Center for Genetic Engineering and Biotechnology, Taizhou, Jiangsu 225316, China;

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  j. Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China