Researchers used patients with Potocki-Shaffer syndrome; a condition characterized by the development of a smaller than normal chin and head with developmental delay and discovered a gene common to patients. The gene, called PHF21A had mutated in patients with then condition. Originally research on the gene was completed on zebrafish and mice, but the gene has also been found in humans. Researchers noted that treating then suppressed gene condition in zebrafish caused a reversal of all possible developmental delays, but that is not the case in humans. Currently, researchers are focusing on finding a test that shows the mutated gene so PHF21A treatments can be developed for use during fetal development. While genetic conditions may not be prevented, the severity of the conditions may be lessened. 


Researchers plan on looking into the PHF21A gene in future research studies to determine whether the mutation is present in all patients with Potocki-Shaffer and if milder mutations cause other diseases. There is some thought that a mild mutation of the PHF21A gene may cause autism. Autism is also a major topic of research as cases are on the rise, but there is no known cause of the disorder. 

Is the Research Study Grasping for an Autism Connection?
Research into possible causes of autism have been the topic of thousands of studies and will be the topic of thousands more. Autism and autism spectrum disorder is one of those conditions that affect children from all backgrounds, genders and races. Finding a cause would eventually lead to finding a cure. There is lots of money in autism research, so whether or not researchers are actually looking for a connection between then PHF21A gene and autism or they are just trying to find grant money for future research by using a possible autism connection is not clear. 

Source: Georgia Health Sciences University. July 8, 2012.