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News
Scientists at Texas Children's and Baylor College of Medicine have pinpointed a rare gain-of-function variant in the BMPR2 gene that appears to cause a newly recognized neurodevelopmental disorder. Found in six unrelated children, the mutation triggers overactive brain signaling, leading to developmental delays, autism, and seizures. Early lab studies suggest the pathway may be targetable with experimental compounds.
Researchers at Texas Children's Duncan Neurological Research Institute and Baylor College of Medicine have identified a rare genetic variant in the BMPR2 gene that appears to cause a newly recognized neurodevelopmental disorder. The study, published in The American Journal of Human Genetics, found the same spontaneous mutation in six unrelated children — most of whom had never received a clear diagnosis for their developmental challenges.
Unlike previously known BMPR2 changes that reduce gene activity (linked to pulmonary arterial hypertension), this variant does the opposite: it makes the gene's receptor overactive even without its normal trigger — a so-called gain-of-function mutation. Using fruit fly models, researchers showed this leads to excessive BMP signaling, abnormal synapse formation, and severe developmental effects across multiple brain cell types.
By the Numbers:
Why it matters: This discovery gives families a potential explanation for previously undiagnosed conditions and opens a new biological pathway for future treatment research — a meaningful step forward for children with rare, hard-to-diagnose neurodevelopmental disorders.
