Researchers find a single, surprising gene behind a disorder that causes intellectual disability
Associated PressScientists 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. “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. “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. This study used more comprehensive “whole-genome” sequencing data from 77,539 people enrolled in the British 100,000 Genomes Project, including 5,529 with an intellectual disability. 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.