Health
Researchers discover surprising gene behind disease that causes intellectual disability
Scientists have discovered the genetic cause of a disease that causes intellectual disability and is estimated to affect around 1 in 20,000 young people. They hope that their discovery will lead to new diagnoses and provide answers for families.
Patients with the disease suffer from a range of problems, including short stature, microcephaly, seizures and loss of muscle mass, the researchers said in their study published Friday in the journal Nature Medicine.
“We were surprised at how common this condition is compared with other rare diseases linked to single genes,” said Ernest Turo of the Icahn School of Medicine at Mount Sinai, the study's senior author.
These syndromes can go unnoticed because their symptoms are sometimes so subtle that doctors can't recognize them just by looking at the patient, said Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study.
“So this wasn't necessarily something that had a name,” he says, “and we're learning more about these syndromes that can only be recognized once we know the cause.”
The mutation occurred in a small “non-coding” gene, the researchers said — a gene that doesn't provide instructions for making a protein. To date, of the roughly 1,500 genes known to be associated with intellectual disability overall, all but nine are protein-coding genes. Most large-scale genetic studies to date have used sequencing techniques that filter out non-protein-coding genes.
The study used more comprehensive “whole genome” sequence data from 77,539 people who took part in the UK 100,000 Genomes Project, including 5,529 with intellectual disability. The rare variants the researchers found in a gene called RNU4-2 were strongly associated with the likelihood of developing intellectual disability.
The discovery “opens the door to diagnosis” for thousands of families, said study author Andrew Mumford, research director for the NHS Genomic Medicine Service in South West England.
More research is needed, Mumford said. It's not clear how the mutation causes the disorder, and there is no cure. But Billington said labs should be able to offer tests for the disease relatively soon. And researchers should be able to help families find each other, support each other, and know they're not alone.
“That's incredibly comforting,” Mumford said.
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The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute's Science Education Media Group. The AP is solely responsible for all content.
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