Discovery of rare gene mutation in DNA may help solve neurodevelopmental disorders

- Scientists make progress every day in their search for a cure for autism, Alzheimer’s and cancer. Now, a new study could be the next breakthrough in solving a medical mystery that spans the globe.

Researchers say they may have found a key to unlocking certain diseases and disorders – a rare gene mutation in DNA.

A clinical genetics lab called GeneDx in Gaithersburg, Maryland first identified this gene mutation. Currently, it is only found in less than 100 people worldwide. But that might be because not many have been tested for it.

Twelve-year-old Ella Butler is doing one of her favorite things – spending time in her Richmond, Virginia home with her older sister, Olivia, and younger brother, Grant.

“When she was a baby, we didn't really realize anything was wrong with her until at eight weeks [when] she had a surgery and had a feeding tube for a year,” said her mother, Shelby. “And we just thought that is why she was delayed.”

Ella’s parents noticed she started missing important milestones as she grew up. Eventually it became clear she would require special care for the rest of her life.

“Every day is a different challenge,” said Greg Butler, Ella’s father. “We have to blend her food for her every day. She can’t eat anything that is anymore hard than mashed potatoes. She can’t go to the bathroom by herself. She doesn't talk.”

The Butlers took Ella to several doctors and a neurologist, but all of her testing came back normal. For more than a decade, they would go about their lives without any answers.

However, just recently, they were told about a simple blood test that would look for a specific gene mutation in Ella's DNA.

“We have heard about the whole exome sequencing test and it was really expensive and we just couldn't afford to do that at the time,” said Shelby. “Then last year, a friend of mine said her insurance had paid for it and so we made an appointment with the geneticist, had it done and it came back that she had a gene mutation called PPP2R5D.”

PPP2R5D is a mutation in a gene that is associated with neurodevelopmental disorders.

“That leads to problems with the way the brain develops, and as a result of that, the brain doesn't function quite right,” said Dr. Wendy Chung, a professor of pediatrics and medicine at Columbia University and the lead researcher looking at the gene mutation in a new study.

She said it is the first time they are finding this gene mutation involved with neurodevelopmental disorders like autism. It could also be associated with Alzheimer’s and even cancer.

“All of these we know are genetic conditions in the sense that they are encoded within the DNA, they are encoded within the genes of that individual,” said Dr. Chung. “But in all cases so far that we know of, they are not passed down from the father or from the mother. In other words, they are not inherited, but they start brand new with the individual with those particular challenges.”

“The geneticist, when we got the results from her test, he said there are only 21 known cases in the world, we really don't know much about it, here is the Facebook group – join that and see what you can get from that,” Ella’s mother recalled.

The Butlers were given very little information, but they ended up finding a world of support on Facebook where a very active, yet small group of other families affected by the gene mutation have met from around the world.

“Now there are 34 families and we can communicate with each other, ask questions,” said Shelby. “People post videos of their kids doing new things and it’s like a community that we have formed now. So it’s so nice to have that chance to be able to talk to somebody who gets it.”

The Butlers hope their story will inspire others to get tested for the gene mutation, which will help continue this study as Ella's very exclusive club is looking to increase its membership.

“Miracles happen every day and this could be her miracle,” said Ella’s mother. “So just to see her say momma or dadda would just be everything for us.”

This weekend, several of the families in that Facebook group are traveling from around the world to Washington D.C. for a special conference. It will be a chance for them to meet face to face for the very first time with the doctors and researchers in the study and for their kids to interact with each other.

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