Scientists have recently learned to diagnose a genetic disorder that causes intellectual disability that is particularly prevalent in societies where marriage between relatives is commonplace.
Drs. Hugo Bellen of Baylor University and Stylianos Antonarakis studied five unrelated individuals from Pakistan and Saudi Arabia, and found they each had similar symptoms. In addition to intellectual disability, they had short stature, speech loss, developmental delays, low muscle tone, as well as some cases of seizures and aggression.
A genetic analysis of the individuals found a common mutation in their IQSEC1 genes.
After finding similar impairments in the neural projections fruit flies genetically altered to lack the equivalent schizo gene, they studied the deletion of the IQSEC1 gene in mice, with similar results.
As scientists begin to look more into Bellen and Antonarakis’ discovery, surely there is much more to learn about this currently-unnamed disorder.
Michael Rock is a New York City-based reporter and self-advocate with autism. A graduate of Brandeis University, his work has appeared in Kings County Politics, Chelsea Now, Our Town, Queens County Politics, and WhoWhatWhy.
