Bi-allelic variants in the ASTN1 gene are linked to various neurodevelopmental disorders, impacting neuronal migration during brain development.
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The study identified 18 individuals from 12 families with likely damaging variants in ASTN1, resulting in developmental delays and intellectual disabilities.
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Affected individuals exhibited a range of clinical features, including autism spectrum disorder, ADHD, epilepsy, and dysmorphic facial features.
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Brain imaging revealed variable results, with some individuals showing normal MRI while others had significant abnormalities like lissencephaly.
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The findings underscore the need for comprehensive genomic testing to identify rare variants and consider complex inheritance in neurodevelopmental disorders.
