Using a new method of DNA testing called “exome sequencing,” scientists at OMRF and the University of Oklahoma Health Sciences Center have pinpointed the genetic mutation behind a rare disease known as Adams-Oliver Syndrome.
Adams-Oliver Syndrome is an extremely rare disease, with only 100 cases reported in medical literature. Symptoms of the disease include scarring on the scalp, defects of the hands and feet, shorter than average height and, in some cases, mental deficiencies. While the discovery of the mutated gene likely won’t affect the treatment of patients with the disease, it could be used for testing and genetic counseling purposes.
“Knowing that it’s Adams-Oliver Syndrome, even though there’s no specific treatment, means doctors will know about future symptoms and can plan for them,” said OMRF researcher and the paper’s senior author, Patrick Gaffney, M.D. “If patients know they have the disease, it can also help them make more informed choices about family planning.”
The work, published online Friday in The American Journal of Human Genetics, shows the promise of using exome sequencing as a method of finding specific genes that cause rare disorders, Gaffney said.
“DNA has many functions, but one of the most important is creating proteins the body needs,” he said. “Exome sequencing is a DNA testing process that allows us to extract the 1 percent of genes that make proteins and study exactly where the mutations occur.”
Using seven genetic samples from two families with Adams-Oliver Syndrome, Gaffney was able to filter their results to pinpoint a gene called RBPJ that is believed responsible for causing the rare disorder.
The mutations in the gene cause it to create protein that doesn’t behave normally, leading to symptoms of the disease.
After the success of this research, Gaffney said he plans to use the exome sequencing technology to continue investigating the genetic roots of other rare diseases.
OUHSC researcher Susan Hassed, Ph.D., collected and characterized the samples from the families and is lead author on the paper. OMRF scientists Graham Wiley, Ph.D., and Shaofeng Wang, M.D., Ph.D., also contributed to the research.