Scientists have found the genetic root of a disorder that causes it highbrow disability. They say the disorder can affect up to one in 20,000 young people.
Those with this disorder share a number of conditions, which also include shortness of breath stature, small heads, seizures and low muscle mass, the researchers said. They published their findings in Nature Medicine.
“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said study principal investigator Ernest Turro of the Icahn School of Medicine at Mount Sinai in New York City. . The researcher says the findings could help doctors identify the disorder.
Charles Billington is a geneticist at the University of Minnesota who works with children. He was not involved in the study. He said doctors sometimes misdiagnose patients with disorders like these because the signs are hard to recognize.
“So it certainly wasn’t something we necessarily had a name for,” he said.
The researchers said the mutations, or changes, occurred in a “non-encryption” gen. Non-coding genes do not provide instructions for making proteins. So far, all but nine of the nearly 1,500 genes known to be associated with intellectual disability are protein-coding genes.
Most large genetic studies use technology that considers only the genes that direct protein production.
This study used more complete “whole-genome” data from around 77,000 people who took part in the British government’s 100,000 Genomes project. About 5,500 had intellectual disabilities.
The rare mutations the researchers found in the gene, called RNU4-2, were strong connected with POTENTiAL for intellectual disability.
Andrew Mumford is research director of the South West England NHS Genomic Medicine Service. He helped write the study. He said the finding “opens the door to diagnoses” for thousands of families.
More research is needed, Mumford said. How the mutation causes the disorder remains unclear and there is no treatment.
But Billington said labs should be able to offer testing for the condition soon. And the researchers said families need to be able to find and support each other – and know they are not alone.
I’m Gregory Stachel.
Laura Ungar reported this story for the Associated Press. Gregory Stachel adapted it for VOA Learning English.
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The words in this story
highbrow – adj. of or relating to the ability to think in a logical way
stature – n. the height of a person
connected – v. When one thing is related to another, they occur together or are connected or related in some way.
POTENTiAL – adj. capable of becoming real
the genetic code – n. the instructions contained in a gene that tell a cell how to make a specific protein
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