Children’s Hospital of Philadelphia researchers have identified previously unknown MAP2K4 gene variants associated with a neurodevelopmental disorder.
Researchers identified nine patients with de novo MAP2K4 variants and one additional patient with a MAP2K4 variant of unknown inheritance, according to an Oct. 13 study published in the American Journal of Human Genetics. Patients exhibited developmental delay, epilepsy and congenital malformations.
MAP2K4 activates the JNK pathway, which is essential for human neurodevelopment. Variants in the gene that produces the enzyme had not previously been linked to disease, though other genes connected to the JNK pathway have been associated with genetic disorders.
CHOP researchers developed CRISPR-edited induced pluripotent stem cell-derived neurons with MAP2K4 deficiency. The stem cells revealed negative effects on the JNK pathway, providing a platform for pathological modeling and preclinical testing.
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