Scientists identify a genetic disorder that may cause intellectual disability
A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown.
A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown, according to a new study.
The research, published Friday in the journal Nature Medicine, investigates the effects of mutations in the gene RNU4-2, which is found in all animals, plants and fungi.
The gene plays an important role in gene splicing — the process of cutting out portions of genetic material and stitching others together. Ernest Turro, the new study’s senior author and an associate professor of genetics and genomic science at the Icahn School of Medicine at Mount Sinai, said that in theory, mutations in the RNU4-2 gene could disrupt that splicing process, ultimately leading to abnormal brain development and intellectual disability.
This type of disability is characterized by significant limitations to a person’s ability to learn, reason, problem-solve, communicate or socialize, and it is often indicated by a low IQ. People with the disorder might also have seizures, motor delays, small heads, short stature or low muscle mass, according to the research.
The researchers hope that genetic tests for intellectual disabilities in children can quickly be updated to screen for the mutations.
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