Researchers have discovered a gene responsible for a collection of developmental disorders RNU4-2 mutations cause problems that had not previously been tied to a distinct genetic disorder The gene’s symptoms are suffered by tens of thousands of people worldwide MONDAY, June 3, 2024 -- Mutations in a single newly identified gene are responsible for developmental disorders affecting tens of thousands of people worldwide, a new study claims. The gene – RNU4-2 – can cause a collection of developmental symptoms that had not previously been tied to a distinct genetic disorder, researchers report. The discovery is significant because it represents one of the most common single-gene genetic causes of such disorders, ranking second only to a movement disorder called Rett syndrome, researchers said.
“Nowadays, finding a single gene that harbors genetic variants responsible for tens of thousands of patients with a rare disease is exceptionally unusual,” said lead researcher , an assistant professor of genetics and genomics sciences at the Icahn School of Medicine at Mount Sinai in New York City. “Our discovery eluded researchers for years due to various sequencing and analytical challenges.” More than 99% of genes known to harbor mutations that cause developmental disorders produce proteins through a process called encoding.
These disorders cause delays that affect a person’s social, academic or occupational function, researchers said. They also cause intellectual delays.
