Newly-described genetic variants linked to autism could enhance genetic diagnoses for families, according to an international study in Molecular Psychiatry, offering insights into neurodevelopment.
As gene discovery progresses, we're increasingly recognizing variants in candidate genes, which serve as potential links—a strong preliminary resource for genetic counselors and families alike.
Investigators analyzed the genotype and phenotype of individuals with GSK3B variants, revealing shared characteristics like developmental delays and autism, suggesting a significant genetic connection.
GSK3B was found to be vital in excitatory neurons during brain development; its inhibition in mice led to atypical development, mirroring behaviors seen in autism.
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