Study finds genetic link for rare childhood brain developmental disorder

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.

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The team led by the University of Otago-Otakou 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 preand postnatal microcephaly (smaller head circumference), with pontocerebellar hypoplasia (underdevelopment in brain stem and cerebellum), seizures and severe intellectual disability.