In unedited, early-access research published in Nature, a team of researchers explain that an estimated 60% of people with neurodevelopmental disorders remain undiagnosed, despite comprehensive genetic testing options. In many cases, this is because gene variants or mutations have not yet been identified or have not been noted yet as pathogenic. Recently, reports Inside Precision Medicine, researchers identified the impact of U4 small nuclear RNA RNU4-2 on neurodevelopmental disorder manifestation.
Small nuclear RNA mutations cause up to 5% of neurodevelopmental disorders. And mutations in RNU4-2 specifically lead to around 0.4% of all neurodevelopmental disorders, making it one of the most common neurodevelopmental conditions with a single gene mediator. According to the study’s authors, additional research should focus on enhancing genetic testing and identifying pathogenicity in non-protein-coding genes, which have not been heavily studied in the past.
Identifying this RNU4-2 variant began with a wide study from Genomics England’s 100,000 Genomes Project. This study included a cohort of 8,841 individuals with neurodevelopmental disorders. In all individuals, there were no insights into what specifically was causing these disorders to manifest. After diving into the study, the research team found that an RNU4-2 variant seemed a likely cause in some situations. After careful evaluation, the research team identified the symptoms and manifestations associated with this specific variant, including:
- Microcephaly (an abnormally small head size)
- Delayed or absent speech
- Short stature
- Low muscle tone
- Global development delays and delayed gross motor function
Initially, the research team identified RNU4-2 related neurodevelopmental disorder in 38 probands, though further testing identified eight more individuals affected by this condition. A proband is someone who either has a genetic condition or feels concerned that they are at risk of having a genetic condition.
In the future, the research team hopes that this study will bring answers to people globally.
What are Neurodevelopmental Disorders?
VeryWell Mind explains that neurodevelopmental disorders are conditions that:
influence how the brain functions and alters neurological development, causing difficulties in social, cognitive, and emotional functioning.
More common neurodevelopmental disorders include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and cerebral palsy. On the other end of the spectrum, rare neurodevelopmental disorders include Rett syndrome and CTNNB1 syndrome. While some individuals may remain undiagnosed until adulthood, many more common neurodevelopmental disorders are diagnosed in toddlers, children, and adolescents. These conditions are more common in males than females. However, females with these conditions are more likely to have additional comorbidities. Treatment and management depend on the specific condition. If you or someone you love has a neurodevelopmental condition, please speak with your physicians for a more targeted care plan.
