ABOVE: Fruit fly embryo staining shows the gene schizo expressed in both glia (red dots) and neurons (light blue).
ANSAR ET AL./AMERICAN JOURNAL OF HUMAN GENETICS
Researchers have identified a previously undescribed neurological syndrome that causes intellectual disability in humans. They also confirmed that a similar gene defect has effects on neural functioning in fruit flies, according to a study published in November in the American Journal of Human Genetics.
Led by Hugo Bellen, a geneticist and neuroscientist at Baylor College of Medicine, researchers studied five individuals with intellectual disability, developmental delay, and short stature and found that they all had two defective copies of the gene IQSEC1. The individuals were from two unrelated families, but in each family, the parents were cousins, suggesting that the inheritance of two defective copies of this gene could be more common in people whose parents are related.
To better understand whether IQSEC1 was responsible ...