Article
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
American journal of human genetics - 5 Feb 2026
Levine Jesse M, Calame Daniel G, Sangermano Riccardo, Du Haowei, Saad Ahmed, Lisfeld Jasmin, Bierhals Tatjana, Denecke Jonas, Uctepe Eyyup, Celik Merve Yoldas, Yesilyurt Ahmet, Yildiz Er Hilal, Yilmaz Gulec Elif, Mushiba Aziza, Almontashiri Naif, Gawlinski Pawel, Wiszniewski Wojciech, Karaca Ender, Alabdi Lama, Pehlivan Davut, Marafi Dana, Zaki Maha S, Alkuraya Fowzan S, Gleeson Joseph G, Jhangiani Shalini N, Gibbs Richard A, Posey Jennifer E, Bujakowska Kinga M, Lupski James R
Abstract excerpt
ASTN1 encodes astrotactin 1, a neuronal-glial ligand in the developing brain that promotes neuronal migration along radial glia in brain structures with laminar organization, such as the cerebral cortex, hippocampus, and cerebellum. In mouse models, disruption of Astn1 results in neuronal migration deficits, a mild reduction in cerebellar volume, and balance and coordination deficits. In humans, bi-allelic ASTN1...
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