Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people.
FILE - This microscope image shows the 46 human chromosomes, blue, with telomeres appearing as white pinpoints. Scientists have found the genetic cause of a neurodevelopmental disorder that they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.
Syndromes like these can go unnoticed because the traits are sometimes so subtle doctors can’t recognize them by just looking at patients, said Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study. Researchers said the mutations occurred in a small “non-coding” gene, meaning it doesn’t provide instructions for making proteins. Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability in general are protein-coding genes. Most large genetic studies so far have used a sequencing technology that typically leaves out genes that don't code for proteins.
The finding “opens the door to diagnoses” for thousands of families, said study author Andrew Mumford, research director of the South West England NHS Genomic Medicine Service.
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