A team of international researchers has uncovered a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children.

The team led by the University of Otago–Ōtākou Whakaihu Waka from New Zealand pinpointed specific changes in a gene called CRNKL1 that can potentially cause a severe genetic disorder that results in affected individuals having profound pre- and postnatal microcephaly (smaller head circumference), with pontocerebellar hypoplasia (underdevelopment in brain stem and cerebellum), seizures and severe intellectual disability.

The finding sheds new light on the complex process by which human bodies create the "instruction manuals" essential for building and maintaining our brains, said Louise Bicknell, Associate Professor, from the Rare Disorder Genetics Laboratory in Otago's Department of Biochemistry.