Archive · 24 Jun 2025
Gene Link Found for Rare Childhood Brain Disorder
Scientists have found a new genetic reason why some children's brains don't develop correctly.
They discovered that changes in a gene called CRNKL1 can lead to smaller heads and brains, along with other problems like seizures and learning difficulties.
The researchers studied several families with this disorder and found similar gene changes, which helps doctors understand the condition better and shows how important genes are for brain growth.
Researchers identified CRNKL1 gene changes linked to a rare developmental disorder.
Affected children showed microcephaly, underdeveloped brain regions, seizures, and intellectual disability.
The study involved 10 families, with 9 exhibiting CRNKL1 gene changes.
The research highlights CRNKL1's crucial role in healthy brain development.
The findings provide insights into how genes guide brain development.
- Who
- A team of international researchers, including those from the University of Otago-Ōtākou Whakaihu Waka.
- What
- Researchers found a new genetic cause for a rare developmental disorder affecting brain development.
- When
- The research was published in the American Journal of Human Genetics.
- Where
- The research was conducted by an international team led by the University of Otago-Ōtākou Whakaihu Waka from New Zealand.
- Why
- To understand the causes of a rare developmental disorder affecting brain development and provide insights into how genes guide brain development.
- Gene Identified
- CRNKL1
- Disorder Symptoms
- Microcephaly, underdeveloped brain stem and cerebellum, seizures, intellectual disability
- Families Studied
- 10
- Families with CRNKL1 changes
- 9
- Lead Author
- Dr. Sankalita Ray Das
- Journal Published In
- American Journal of Human Genetics
