Nager Syndrome: Gene identified in rare malady that deforms kids

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CALGARY — Eight-year-old Hannah Richardson enjoys softball and soccer, and learning about science at school “because we do explosions and it’s cool.”

On Tuesday, the Grade 3 student, who has a mild form of Nager Syndrome, had another question on her mind.

“When I have kids when I grow up, will my kids have Nager Syndrome?” she asked her longtime doctor and genetics expert, Dr. Francois Bernier.

“Not all of them. Some of them might,” Bernier answered.

“I know lots and lots of kids like you who grow up and have families.”

It was a poignant moment that showed the rapport between young patient and doctor — and answered a question Bernier may not have been able to address just half a year earlier.

But a new study, led by Bernier at the Alberta Children’s Hospital Research Institute, has now identified the elusive gene that causes Nager Syndrome. The rare condition causes deformation in a child’s face and limbs, as well as deafness.

Bernier’s study, published in the May issue of the American Journal of Human Genetics, has helped scientists understand the “inheritance pattern” of Nager Syndrome, said Bernier, the section chief of clinical genetics at the Alberta Children’s Hospital and medical genetics associate professor at the University of Calgary.

It’s also enabled experts to develop the first test for the condition, he added. That allows experts to provide earlier and more accurate diagnosis — and help families understand what’s in store as their children develop, he said.

Hannah’s parents see a bright future for their little girl.

“When we first found out the gene, it was like we had all the questions answered,” said Hannah’s mother, Ronalynn Richardson.

“It was like Dr. Bernier had written us a story with lots of blanks. When we found she had Nager Syndrome, he filled in all of the blanks. It means she’s going to be a typical, healthy child who will live a normal, successful life.”

Hannah spent the first couple weeks of her life in a neonatal intensive care unit at a Calgary hospital as doctors tried to figure out why the infant had trouble swallowing and breathing. She’s had regular appointments with Bernier ever since.

The Calgary girl was about five years old when Bernier concluded she likely had some form of Nager Syndrome. But the diagnosis wasn’t confirmed until the gene was discovered.

The condition is known to affect at least 10 Canadians, although experts suspect the real number of cases could be close to triple that, according to Bernier.

Collectively, genetic disorders affect the lives of hundreds of thousands of Canadian children, he added.

“Helping us understand what happens during development when you end up with these physical differences, it’s important,” said Bernier.

The study involved collaboration between FORGE Canada — a national consortium of clinicians and scientists studying genes responsible for rare pediatric disorders — and the University of Washington, and used next generation sequencing technology.

Ronalynn and Kevin Richardson hadn’t heard of Nager Syndrome before their daughter was born.

They’re pleased the new genetic information means other families can now get a conclusive diagnosis sooner.

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