To investigate the association of bi-allelic variants in the ASTN1 gene with neurodevelopmental disorders.
Key Findings:
Most affected individuals exhibited developmental delays or intellectual disabilities.
Clinical features included autism spectrum disorder, ADHD, epilepsy, and dysmorphic facial features.
Brain imaging showed variable results, with some individuals having normal scans and others displaying significant abnormalities.
Most individuals had recessive, bi-allelic variants in ASTN1, with some showing multilocus pathogenic variations.
Interpretation:
ASTN1-related disorders present a broad clinical spectrum, emphasizing the need for comprehensive genomic testing in unexplained neurodevelopmental disorders.
Limitations:
Study sample size was small, limiting generalizability.
Variability in clinical presentation may complicate diagnosis.
Conclusion:
Recognition of ASTN1 as a key gene in neurodevelopmental disorders can enhance diagnosis, genetic counseling, and family risk assessment.
