New rare genetic disease impacting children found

Doctors from India find previously unknown rare genetic disease in children

It is such a rare condition that we found only 10 such cases in five countries, one doctor said

Representative image. Credit: iStock Images

Medical researchers and doctors from five countries, including India, 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 reported that a mysterious disorder observed among children for over 10 years, was a previously unrecognized syndrome that could also affect the kidneys, heart, and eyes of the kids leaving them disabled lifelong.

"It is such a rare condition that we found only 10 such cases in five countries. I have seen only one patient,” Ratna D Puri, a geneticist at Sir Ganga Ram Hospital and one of the team members, told DH. The researchers suggested future studies to determine its prevalence.

The research team dubbed the condition “Zaki syndrome” after co-author Maha S Zaki of the National Research Center in Cairo, Egypt, who first spotted the condition.

Zaki syndrome affects the prenatal development of several organs of the body, including eyes, brain, hands, kidneys and heart. Children suffer from lifelong disabilities. "Their cognitive functions are poor because of their small brain size. They are slow learner," said Puri.

Published in the New England Journal of Medicine, the work involved researchers in Egypt, India, the United Arab Emirates, Brazil and the USA. “Although different doctors were caring for these children, all of the children showed the same symptoms and all had DNA mutations in the same gene,” senior author of the study Joseph G Gleeson, professor of neuroscience at University of California San Diego School of Medicine and director of neuroscience at the Rady Children’s Institute for Genomic Medicine said in a statement.

“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 recognize that they all had the same disease until doctors compared clinical notes. We realized we were dealing with a new syndrome that can be recognized by clinicians, and potentially prevented.”

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

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