CHOP Researchers Identify Genetic Variant Linked to Neurodevelopmental Disorder
Researchers at the Children's Hospital of Philadelphia have identified a link between specific variants of the MAP2K4 gene and a previously unknown neurodevelopmental disorder. The study, published in the American Journal of Human Genetics, details how these genetic mutations affect brain development and cause symptoms like epilepsy and developmental delays.
Why it matters
Identifying the genetic basis of rare syndromes is a critical step toward developing targeted treatments and providing families with definitive diagnoses.
Philadelphia, October 13, 2026 - Researchers from Children's Hospital of Philadelphia (CHOP) have discovered the mechanisms of previously unknown changes in a gene that result in symptoms associated with a neurodevelopmental disorder. The findings underscore the importance of a critical pathway and its role in brain development. The findings were published today in the American Journal of Human Genetics .
MAP2K4 is an enzyme that activates the c-Jun N-terminal kinase (JNK) pathway, an essential pathway for human neurodevelopment. While several prior studies have demonstrated that a loss in MAP2K4 is associated with multiple types of cancer, variants in the gene that produces the enzyme have not been linked to disease. However, other genes linked to the JNK pathway have been associated with genetic disorders, and the gene has been linked as a potential cause of neurodevelopmental disorders.
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