New research from the University of Lausanne shows that both an excess and a deficiency of the AFF3 protein can lead to severe intellectual deficiencies. This discovery is crucial for early diagnosis of the rare genetic disorder KINSSHIP syndrome, characterized by mutations in the AFF3 gene. The study reveals that abnormalities in the protein’s levels are detrimental to development. By analyzing genome data and conducting experiments in different organisms, researchers found that both too much and too little of the AFF3 protein cause developmental defects. This advances understanding of the disorder and can improve early detection of gene defects during fetal development.
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The impact of protein dosage on fetal development
