Scientists Discover Gene Behind Disorder Causing Intellectual Disability
Scientists have identified the genetic source of a disorder that leads to intellectual disability, affecting an estimated one in 20,000 young individuals. The researchers hope that this breakthrough will pave the way for a new diagnosis that can offer answers to affected families.
Individuals with this disorder exhibit a range of symptoms, including intellectual disability, short stature, small heads, seizures, and low muscle mass. The study, published in the journal Nature Medicine, highlights the prevalence of this disorder compared to other rare diseases tied to a single gene.
Dr. Ernest Turro, the senior author of the study from the Icahn School of Medicine at Mount Sinai, emphasized the importance of this discovery. He noted that these syndromes are often overlooked by healthcare professionals due to their subtle nature, which can make them difficult to identify through observation alone.
The genetic mutations linked to this disorder were found in a small non-coding gene called RNU4-2. This gene does not provide instructions for making proteins, unlike the majority of other genes associated with intellectual disability. The study utilized “whole-genome” sequencing data from over 77,000 individuals, leading to the identification of rare mutations in the RNU4-2 gene strongly linked to intellectual disability.
While more research is necessary to understand how these mutations cause the disorder and to develop treatments, the findings offer hope for thousands of families affected by this condition. Dr. Andrew Mumford, one of the study authors, emphasized the importance of potential diagnoses and the opportunity for affected families to connect and support one another.
