New Delhi: A new study led by the University of Otago–Ōtākou Whakaihu Waka in New Zealand has identified a genetic mutation in the CRNKL1 gene as a new cause of a rare and severe developmental brain disorder in children.
Published in the American Journal of Human Genetics, the study involved 10 families, nine of which showed mutations at the exact same position in the CRNKL1 gene. All affected children displayed similar clinical features including profound pre- and postnatal microcephaly (unusually small head size), pontocerebellar hypoplasia (underdevelopment of the brain stem and cerebellum), seizures, and severe intellectual disability.
The study provides clear evidence that changes in the CRNKL1 gene are closely associated with this severe neurological condition.
“Our bodies rely on a precise process called ‘splicing’ to read and process genetic instructions from our DNA and help generate the building blocks required in our body,” said Associate Professor Louise Bicknell, from the Rare Disorder Genetics Laboratory in Otago’s Department of Biochemistry.
“While it's known that problems with the machinery that coordinates splicing can cause various genetic disorders, this new finding adds to a small but growing recognition of the potentially severe impact on brain development in particular,” Bicknell added.
The research was led by Dr. Sankalita Ray Das, a postdoctoral researcher in the Rare Disorder Genetics Laboratory, who said the results show how vital the CRNKL1 gene is to brain development.
“The research findings clearly show that CRNKL1 is crucial for healthy brain development,” said Dr. Ray Das. “The finding not only identifies a new genetic cause for a severe neurological disorder but also offers further clues into the complex ways our genes guide brain development.”
“Importantly, this knowledge has provided understanding for families affected by these severe conditions and lays the foundation for further research into why only the brain is affected by these genetic changes,” she added.
The discovery offers new insights into the genetics of rare neurological disorders and could contribute to improved diagnosis and future research in developmental neuroscience.
