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Gene Mutation Linked to Facial, Skull Abnormalities
Date:7/12/2012

The researchers said, however, that the study provides insight into face, skull and brain formation. The findings could lead to the development of genetic screening or intervention in the womb to increase PHF21A levels.

More research is needed to identify other genes regulated by PHF21A and screen patients for additional mutations, the study authors added.

"We want to find other people with different genes causing the same problem," Layman said. "Now that we know the causative gene, we can sequence the gene in more patients and see if they have a mutation."

The study was published this month in the American Journal of Human Genetics.

More information

The U.S. Office of Rare Diseases Research has more about Potocki-Shaffer syndrome.

-- Mary Elizabeth Dallas

SOURCE: Georgia Health Sciences University, news release, July 5, 2012


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