Doctors find unknown rare genetic disease in children in India: All you need to know about ‘Zaki syndrome’

The disorder is so rare that only 10 such cases have been found so far — in India, Egypt, the United Arab Emirates, Brazil, and the United States

Doctors find unknown rare genetic disease in children in India: All you need to know about 'Zaki syndrome'

The mysterious disorder impacts the brain and multiple other organs in children. Image used for representational purposes only. AFP

Medical researchers and doctors from India, along with five other countries, have identified a previously unknown rare genetic disorder that impacts the brain and multiple other organs in children in their respective countries for the first time.

An international team on Wednesday in The New England Journal of Medicine dubbed the condition as Zaki syndrome after co-author Maha S Zaki of the National Research Center in Cairo, Egypt, who first spotted the condition.

In their paper, the team said that the previously unrecognised syndrome could also affect the kidneys, heart, and eyes of the kids leaving them disabled lifelong.

Here’s what we know of this rare genetic disease.

What is Zaki Syndrome?

Zaki Syndrome, the extremely rare condition, affects the prenatal development of several organs of the body, including eyes, brain, hands, kidneys and heart.

This may even lead to children suffer from lifelong disabilities.

Ratna D Puri, a geneticist at Sir Ganga Ram Hospital and one of the team members speaking to Deccan Herald was quoted as saying: “Their cognitive functions are poor because of their small brain size. They are slow learners.”

Senior author Joseph G Gleeson, MD, Rady Professor of Neuroscience at UC San Diego School of Medicine and director of neuroscience at the Rady Children’s Institute for Genomic Medicine, said that all of the children showed the same symptoms and all had DNA mutations in the same gene.

“We have been perplexed by children with this condition for many years,” said Gleeson. “We had observed children around the world with DNA mutations in the Wnt-less (WLS) gene, but did not recognise that they all had the same disease until doctors compared clinical notes. We realised we were dealing with a new syndrome that can be recognized by clinicians, and potentially prevented.”

Where has it been found?

As of now, the syndrome was found in children in Egypt, India, the United Arab Emirates, Brazil, and the United States.

Ranta D Puri added that it was an extremely rare condition, adding, “It is such a rare condition that we found only 10 such cases in five countries. I have seen only one patient.”

Is there a cure?

The team also developed a potential intervention and tested them successfully on mice in the laboratory.

They treated the infected mice with a drug called CHIR99021, which boosts Wnt signaling. In each mouse model, they found CHIR99021 boosted Wnt signals, and restored development. Mouse embryos grew body parts that had been missing and organs resumed normal growth.

Doctors find unknown rare genetic disease in children in India All you need to know about Zaki syndrome

Images depict effects of Zaki syndrome and treatment with drug CHIR99021. At left, a normal mouse skeleton with legs and tail. In the centre, a mouse carrying the gene mutation with tail missing. At right, mouse with mutation treated with drug, displaying re-grown tail. Image Courtesy: Joseph Gleeson, UC San Diego

“The results were very surprising because it was assumed that structural birth defects like Zaki syndrome could not be prevented with a drug,” said first author Guoliang Chai, PhD, a former postdoctoral fellow at UC San Diego School of Medicine now at Capital Medical University in Beijing, China. “We can see this drug, or drugs like it, eventually being used to prevent birth defects, if the babies can be diagnosed early enough.”

Though more experiments are needed to find out whether such a disorder can be reversed with a drug, the researchers hope that such experiments would open up the window to correct birth defects with medical intervention if detected early.

With inputs from agencies

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