From the Journals

A New Clue in Developmental Disorders

Bi-allelic mutations associated with intellectual disability and brain abnormalities

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  • February 20, 2026

  • 2 min

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Bi-allelic variants in the ASTN1 gene contribute to various neurodevelopmental disorders by impairing neuronal migration during brain development. A study identified 18 individuals from 12 families with damaging variants in both ASTN1 copies, who exhibited developmental delays, intellectual disabilities, autism spectrum disorder, and other clinical features. Brain imaging results varied widely, indicating a broad spectrum of presentation related to ASTN1 mutations. Comprehensive genomic testing is recommended for accurate diagnoses and improved genetic counseling in pediatric neurology.

Original Source(s)

A New Clue in Developmental Disorders

Bi-allelic mutations associated with intellectual disability and brain abnormalities

  • February 20, 2026

  • 2 min

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