Previously Undiscovered Genetic Mutation Causes Intellectual Disability and Macrocephaly

According to a story from University at Buffalo, a recent discovery of a new genetic mutation continues to build on decades of research from Dr. Richard Gronostajski, a professor and biochemist associated with the school, and his colleagues. The mutation in question affects nuclear factor I B (NFIB) gene and causes one copy of the gene to be absent, leading to cognitive disability and macrocephaly, or enlarged head size.

About Nuclear Factor I Proteins

A name for this newly discovered genetic, neurological disorder has yet to be determined. Dr. Gronostajski has been research nuclear factor I proteins for some time. These proteins play a vital role in the brain by differentiating stem cells. Other research into nuclear factor I proteins has implicated their absence in a number of rare genetic diseases. They may also play a role in bipolar disorder and autism spectrum disorder.

NFIB Symptoms

Regardless of prior research, this latest study is the first to describe this unique combination of symptoms resulting from the mutation of NFIB. Aside from mild intellectual disability and macrocephaly, other symptoms associated with this mutation include behavioral abnormalities, attention deficit disorder, speech delays, and poor muscle tone. This syndrome is incredibly rare; only 18 patients worldwide have been identified.

Research Origins and Next Steps

Dr. Gronostajski first became interested in nuclear factor I back in the 1980s, when it became clear that these genes were not present bacteria or other single celled life forms. His prior research has revealed mutations affecting NFIX and NFIA as well. Dr. Gronostajski was also instrumental in the development of mouse models for these mutations as well. These models will be useful in the development of potential therapies to address these disorders.

The biochemist says that the next step will be to investigate whether this mutation is present in other disorders that are linked to intellectual and behavioral abnormalities. In the past, researchers would have no way of knowing that this mutation was one that they should look out for. 

The original study was published in the The American Journal of Human Genetics and can be found here.


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