A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

A rare gain-of-function BMPR2 variant causes neurodevelopmental disorders in humans and induces defects in fruit flies.

• Why it matters: Understanding genetic causes of neurodevelopmental phenotypes can improve diagnosis and treatment strategies for conditions like autism and developmental delay.
• What they did: Researchers identified a recurrent de novo missense mutation (c.1126G>A, p.Glu376Lys) in BMPR2 in six individuals and used Drosophila models to analyze its functional impact, demonstrating hyperactivity of BMP signaling.
• The result: The gain-of-function mutation leads to neurodevelopmental abnormalities in flies and likely contributes to similar phenotypes in humans, highlighting BMP pathway dysregulation as a potential therapeutic target.