Loss-of-function variants in HIVEP2 are a cause of intellectual disability
Original research article by S. Srivastava et al. (2016).
Read the abstract here.
This study used whole-exome sequencing to identify three people with changes in the HIVEP2 gene that were not found in either parent. The HIVEP2 gene is linked to a protein in the brain. This protein regulates other genes, many of which are related to brain growth and development. All three people had varying degrees of global developmental delay and intellectual disability, brain abnormalities, and various abnormal physical features. Two of the three had behavioral issues. While HIVEP2 changes are not currently linked to one diagnosis, the relationship between this gene and the brain suggests that HIVEP2 changes may be a cause of the clinical features observed in the people in this study.