Genetic link to rare developmental delays in kids identified

​New York: Researchers have identified a genomic mutation that causes physical abnormalities and developmental delays in children.

Upon analysing the genome of a six-year-old boy, the scientists identified a novel mutation that affects a protein known as CASK, which is key to brain development and the signals transmitted by brain cells, or neurons.

"Identifying this new CASK mutation helps build our understanding of how these multifaceted disorders occur, and provides insight into how they might be treated in the future," said senior study author Isabelle Schrauwen, Assistant Professor at Translational Genomics Research Institute (Tgen) in Phoenix, Arizona, US.

The child involved in this study was seen at TGen's Center for Rare Childhood Disorders, which helps families identify the genetic source of their children's medical symptoms.a