Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Haploinsufficiency of ELAVL2 causes a neurodevelopmental disorder with cognitive, behavioral, and neurological features in 16 individuals.

• Why it matters: Understanding the genetic basis of neurodevelopmental disorders is crucial for diagnosis and potential interventions, especially for genes like ELAVL2 not previously linked to disease.
• What they did: Researchers identified de novo heterozygous variants in ELAVL2 through genetic analysis, supported by population association studies, Drosophila models, and molecular experiments involving 16 affected individuals.
• The result: Findings establish ELAVL2 variants as a cause of neurodevelopmental disorder via haploinsufficiency, highlighting its essential role in neuronal function, cognition, and behavior, and enabling improved genetic diagnosis.