Gene Discovered By Scientists Linked To Facial Abnormalities

Gene Discovered By Scientists Linked To Facial Abnormalities

 The researchers believe that PHF21A's primary function is to suppress other genes. For instance, in ensuring that genes, which should only be expressed in brain cells do not appear in other types of cells.

The team focused on the gene when they used a distinctive chromosomal break found in patients with Potocki-Shaffer syndrome as a starting point. Chromosomes, i.e. packages of DNA and protein, are not supposed to break. However, when they do, they can damage nearby genes.

Dr. Kim explained: "With less PHF21A, brain cells died, so this gene must play a big role in neuron survival."

The researchers discovered the PHG21A mutated gene in patients with Potocki-Shaffer syndrome, a rare disorder that can result in significant abnormalities, like a small head and chin as well as intellectual disability.

Researchers have discovered a gene called PHF21A, whose mutation results in malformed faces and skulls, as well as mental retardation.