Levine et al., 2026 described eighteen individuals from twelve unrelated families with biallelic, ultra-rare, predicted damaging variants in ASTN1 and one individual with heterozygous variants in both ASTN1 and ASTN2 presenting with a variable neurodevelopmental disorder characterized by mild to profound developmental delay or intellectual disability, autism or autistic features, ADHD, epilepsy, dysmorphic facial features, hypotonia, spasticity, ataxia, and structural brain abnormalities. A homozygous missense variant in the ASTN1 gene was previously identified in an ASD proband born to consanguineous Middle Eastern parents in Tuncay et al., 2022, while additional de novo heterozygous variants in the ASTN1 gene, including a de novo loss-of-function variant and several de novo missense variants, have been reported in ASD probands from the iHART cohort, the SPARK cohort, and a Chinese ASD cohort (Ruzzo et al., 2019; Zhou et al., 2022; Yuan et al., 2023).
Molecular Function
Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
