TGen Center In Phoenix Identifies Rare Genetic Mutation Causing Developmental Delays In Children

By Bridget Dowd
Published: Tuesday, February 7, 2017 - 8:35am

A rare genetic mutation that causes developmental delays in children has been identified by researchers at the Translational Genomics Research Institute in Phoenix.

Dr. Isabelle Schrauwen with TGen’s Center for Rare Childhood Disorders said a 6-year-old boy came to the center after seeing several doctors who were unable to diagnose him.

Schrauwen said the boy is the second person in the world with a disorder called FGS4. It’s caused by a mutation in a protein, CASK, which is important in communication between neurons. She said it’s important to share these findings because it creates a network of parents of children with rare diseases who can help each other find answers.

"A lot of parents blame themselves for what happens and I think, in this case, they understand it’s not their fault," Schrauwen said. "We know what’s going on and by knowing what’s going on we can actually help in several ways.

Schrauwen said this particular mutation can cause symptoms like vomiting and uncontrolled eye-movement. She said identifying the cause will allow researchers to move forward with therapy options and help prevent additional symptoms.

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