Monday, June 3, 2024 – Mutations in a single newly identified gene are responsible for developmental disorders affecting tens of thousands of people around the world, a new study says.
The RNU4-2 gene may cause a range of developmental symptoms that have not previously been linked to a distinct genetic disorder, researchers report.
The researchers said this discovery is important because it represents one of the most common genetic causes of such disorders, second only to the movement disorder called Rett syndrome.
“Today, finding a single gene containing genetic variants responsible for tens of thousands of patients with a rare disease is highly unusual,” said lead researcher Daniel Green, M.D., assistant professor of genetics and genomic sciences at the Icahn School of Medicine from Mount Sinai. , in New York City. “Our discovery has eluded researchers for years due to several analytical and sequencing challenges.”
More than 99% of genes known to harbor mutations that cause developmental disorders produce proteins through a process called encoding.
The researchers said that these disorders cause developmental delays that affect a person’s social, academic or occupational performance. It also causes intellectual delays that limit a person’s learning and problem-solving skills.
The researchers thought they might be missing some of the genetic causes of developmental disorders by ignoring non-coding genes that don’t make proteins.
RNU4-2 is a non-coding gene, which researchers discovered after using a UK genetics library to analyze more than 41,000 non-coding genes in more than 5,500 people with intellectual disability and about 46,400 healthy people.
The new study appears in the journal Nature Medicine.
“What I found remarkable was how such a common cause of a neurodevelopmental disorder was overlooked in the field because we focused on genetic coding,” said Dr. Heather Mefford, a researcher in the Center for Pediatric Neurodevelopmental Research at St. Jude Children’s Research Center. hospital. Mefford did not participate in the investigation.
“This study’s discovery of mutations in non-coding genes, especially RNU4-2, highlights an important cause that was previously overlooked,” Mefford continued. “It underscores the need to look beyond coding regions, which can reveal many other genetic causes, opening up new diagnostic possibilities and research opportunities.”
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 found in all animals, plants and fungi,” said lead researcher Ernest Toro, associate professor. Genetics and Genomics at Icahn Mount Sinai.
“Most people with a neurodevelopmental disorder do not receive a molecular diagnosis after genetic testing,” Toro said in a Mount Sinai news release. “Thanks to this study, tens of thousands of families will now be able to obtain a molecular diagnosis for their affected relatives, ending many diagnostic journeys.”
more information
The U.S. Centers for Disease Control and Prevention (CDC) has more information about developmental disabilities.
Source: Icahn School of Medicine at Mount Sinai, press release, May 31, 2024
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