Genetic Cause of An Intellectual Disability Identified in RNU4-2 Gene
Novel Study Links Genetic Changes in a Non-Coding Gene Called RNU4-2 to Neurodevelopmental Disorders
Author: Icahn School of Medicine at Mount Sinai
Published: 2024/06/02
Publication Type: Research, Study, Analysis – Peer-Reviewed: Yes
Contents: Summary – Introduction – Main – Related
Synopsis: Researchers have discovered a neurodevelopmental disorder linked to mutations in a single gene (RNU4-2), impacting tens of thousands of individuals globally. Through rigorous genetic analysis, the researchers discovered that mutations in a small non-coding gene called RNU4-2 cause a collection of developmental symptoms that had not previously been tied to a distinct genetic disorder. More than 99 percent of genes known to harbor mutations that cause neurodevelopmental disorders encode proteins. The researchers hypothesized that non-coding genes, which don’t produce proteins, could also host mutations leading to intellectual disability.
Introduction
Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31, 2024, online issue of Nature Medicine, was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, [...]