Single Gene Discovery Links to Intellectual Disability

Single Gene Discovery Links to Intellectual Disability
Single Gene Discovery Links to Intellectual Disability. Credit | Shutterstock

United States: Researchers have identified the genetic origin of an intellectual impairment illness that affects up to one in 20,000 young people. Additionally, they hope that their discovery results in a novel diagnostic that gives families peace of mind.

The researchers found that people with the illness suffer a variety of problems, including poor muscle mass, small heads, seizures, and short stature. They published their findings in the journal Nature Medicine on Friday.

As compared to other uncommon illnesses caused by a single gene, “we were struck by how common this disorder is,” stated Ernest Turro, senior author of the study from the Icahn School of Medicine at Mount Sinai.

According to Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study, syndromes like these can go undiagnosed because the features are sometimes so subtle that clinicians can’t recognize them by merely looking at patients.

The alterations, according to the researchers, happened in a little gene that is “non-coding,” or does not include instructions on how to make proteins. As of right now, the almost 1,500 genes that have been connected to intellectual disability in general are all protein-coding genes, with the exception of nine. Up until now, the majority of sizable genetic research have employed sequencing technology, which usually excludes genes that do not code for proteins.

More extensive “whole-genome” sequencing data from 77,539 participants in the British 100,000 Genomes Project—including 5,529 individuals with intellectual disabilities—were used in this study. The possibility of developing intellectual disability was substantially correlated with the uncommon mutations in the RNU4-2 gene that the researchers discovered.



For millions of families, the discovery “opens the door to diagnoses,” according to study author Andrew Mumford, research director of the the South WEst England NHS Genomic Medicine Service.

Mumford stated that more research is required. There is no known treatment for the illness, and it is unclear how the mutation causes it. However, according to Billington, laboratories ought to be able to provide tests for this illness really soon. Researchers also stated that families ought to be able to locate one another, offer assistance, and realize they’re not alone.

That can provide a great deal of comfort, Mumford added.

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