Genetic marker found for rare children's brain disease

A New Zealand-led research team has found new information about the cause of microcephaly, a disease that affects brain growth and function in children.
Photo:
Image by Gerd Altmann from Pixabay
An Otago-led team has uncovered a genetic cause for a rare children's brain disorder.
University of Otago associate professor Louise Bicknell, co-author of the study, said the international research team were investigating microcephaly, a developmental disorder where children's brains fail to grow.
Dr Louise Bicknell says new research has helped pinpoint a genetic cause of the devastating children's brain disease microcephaly.
Photo:
Supplied/ University of Otago - Sharron Bennett
They pinpointed specific changes in a gene called CRNKL1, and their findings were recently published in the prestigious
American Journal of Human Genetics.
It was the culmination of a seven-year study of a New Zealand family, Bicknell said.
"Their wee girl had really severe microcephaly. Her brain was much smaller than we'd hoped for, and there were quite a few structural things that were abnormal about her brain, so quite unusual."
Researchers compared her brain structure with that of nine children overseas who also had the condition.
"It was only then that, we realised they all had similar features, of a really small brain, as well as these structural [aspects] of other parts of the brain not being so usual."
In a striking discovery, nine of the families also showed genetic changes in the exact same spot in the CRNKL1 gene.
It proved there was a strong link between these specific genetic changes and the disorder, and it was an exciting breakthrough, she said.
"That's when the heart starts racing and you know you are onto something. Your gut instinct kicks in and says, this can't be a coincidence, this must be something."
Lead author Dr Sankalita Ray Das, a postdoctoral fellow at Otago's Rare Disorder Genetics Laboratory, said the research findings clearly showed that CRNKL1 was "crucial" for healthy brain development.
"Importantly, this knowledge has provided understanding for families affected by these severe conditions and lays the foundation for further research into why just the brain is affected by these genetic changes."
The researchers received funding from the Neurological Foundation of New Zealand, Cure Kids and the University of Otago, Bicknell said.
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