A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown, according to a new study. The research, published Friday in the journal Nature Medicine, investigates the effects of mutations in the gene RNU4-2, which is found in all animals, plants and fungi. The gene plays an important role in gene splicing — the process of cutting out portions of genetic material and stitching others together.
“There are probably tens of thousands of people around the world that carry this, but does it cause intellectual disability in those tens of thousands? I don’t know,” he said. Gruen added, however, that the discovery is significant. Hakonarson said the mutations probably cause at least some symptoms. “The likelihood that this is disease-causing with these variants — which are not seen, by the way, in healthy people — is almost 100%,” he said.
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