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. And they hope their discovery leads to a new diagnosis that can provide answers to families.Those with the condition have a constellation of issues, which also include short stature, small heads, seizures and low muscle mass, said the researchers, who published their findings in the journal Nature Medicine on Friday.“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study.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.“So certainly this wasn’t something that we necessarily had a name for,” he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”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 kno …
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[mwai_chat context=”Let’s have a discussion about this article:nnScientists 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. And they hope their discovery leads to a new diagnosis that can provide answers to families.Those with the condition have a constellation of issues, which also include short stature, small heads, seizures and low muscle mass, said the researchers, who published their findings in the journal Nature Medicine on Friday.“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study.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.“So certainly this wasn’t something that we necessarily had a name for,” he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”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 kno …nnDiscussion:nn” ai_name=”RocketNews AI: ” start_sentence=”Can I tell you more about this article?” text_input_placeholder=”Type ‘Yes'”]
