New Gene Mutation Revealed as Major Cause of Developmental Disorders 

United States: Researchers in the United States have identified mutations in the RNU4-2 gene as the cause of developmental disorders in tens of thousands of people worldwide. 

Details on the Discovery 

RNU4-2 was found that can cause various developmental issues, which have been earlier established to be unrelated to any gene connection, further revealed by the scientists. 

In particular, the discovery is important because the researchers indicate that it appears to be one of the most commonly mutated single-gene genetic causes of the kind of movement abnormalities you are discussing, with only Rett syndrome being a more common cause, according to US News. 

Insights from the Research Team 

According to the lead researcher and an assistant professor of genetics and genomics sciences at the Icahn School of Medicine at Mount Sinai in New York City, Daniel Greene, “Nowadays, finding a single gene that harbors genetic variants responsible for tens of thousands of patients with a rare disease is exceptionally unusual,” as US News reported. 

Moreover, “Our discovery eluded researchers for years due to various sequencing and analytical challenges,” he added. 

New Gene Mutation Revealed as Major Cause of Developmental Disorders. Credit | Pexels
New Gene Mutation Revealed as Major Cause of Developmental Disorders. Credit | Pexels

This research establishes the fact that over 99 percent of the genes that are familiar with mutations and consequently developmental disorder-producing encoding a protein termed encoding. 

These are the disorders that cause developmental delay, a status that limits an individual in his/her abilities to manage interpersonal relationships, pertaining to school or working place as pointed out by researchers. They also facilitate learning disability that relatively affects the ability to learn, think and arrive at solutions on problems. 

Researchers believed that there may be other related genes that could be responsible for developmental disorders, which could be overlooked by such a process because certain non-coding regions of DNA that are not organized for proteins were being ignored. 

This is a non-coding gene known as RNU4-2, and after analyzing the results of the genome-wide study the researchers concluded that this gene was ”guilty” since it was discovered among over 41,000 non-coding genes among 5,500 persons with intellectual disability as well as about 46,400 control persons. 

The findings of the study were published in the journal Nature Medicine

Publication and Expert Opinions 

According to Dr. Heather Mefford, a researcher with the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital, “What I found remarkable is how such a common cause of a neurodevelopmental disorder has been missed in the field because we’ve been focusing on coding genes,” as US News reported. 

Further added, “This study’s discovery of mutations in non-coding genes, especially RNU4-2, highlights a significant and previously overlooked cause,” and he continued, “It underscores the need to look beyond coding regions, which could reveal many other genetic causes, opening new diagnostic possibilities and research opportunities.” 

Importance of the RNU4-2 Gene 

According to the senior researcher, Ernest Turro, who is an associate professor of genetics and genomic sciences at Icahn Mount Sinai, that RNU4-2 is a very short gene, “but this gene plays a crucial role in a basic biological function of cells, called gene splicing, which is present in all animals, plants and fungi,” as US News reported. 

“Most people with a neurodevelopmental disorder do not receive a molecular diagnosis following genetic testing,” and “Thanks to this study, tens of thousands of families will now be able to obtain a molecular diagnosis for their affected family members, bringing many diagnostic odysseys to a close,” as Turro continued.