Scientists Have Found a New Neurodevelopmental Disorder Hidden in Our Genes
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Researchers have identified a new neurodevelopmental disorder, ReNU2 syndrome, caused by a mutation in the RNU2-2 gene. The discovery promises new diagnoses for thousands of children and families worldwide, and provides a clear molecular explanation for the condition.
An international team of researchers has discovered a new neurodevelopmental disorder, ReNU2 syndrome. The disorder is caused by a mutation in the RNU2-2 gene, which is recessive and non-coding. This means it needs to be inherited from both parents to become active and doesn't build proteins, but works indirectly in cells. The researchers analyzed 110,009 individual genome records and identified 14,805 unrelated individuals with a neurodevelopmental disorder. They compared these individuals with 52,861 unrelated individuals without a disorder as a control group. The disorder can show up as developmental delays, limited speech ability, and low muscle tone. Learning difficulties may be evident, as well as traits shared with autism and problems with walking or other types of movement. The researchers estimate that ReNU2 syndrome could account for around 10 percent of recessive neurodevelopmental disorder cases with a known genetic cause. This could potentially affect thousands of people worldwide. The discovery provides a clear molecular explanation for the condition and gives the research community a concrete biological target to guide future therapeutics. However, challenges remain in managing and preventing the disorder.
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