How does ACBD6 deficiency mechanistically cause the specific pattern of midline brain malformations?

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Description

The study identifies consistent midline brain abnormalities (corpus callosum defects, anterior commissure hypoplasia, midbrain shortening) in 38-70% of patients, but doesn’t explain how disrupted N-myristoylation leads to these specific developmental defects. Understanding this mechanism is crucial for targeted therapeutic approaches.

Gap type: unexplained_observation Source paper: Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. (2024, Brain : a journal of neurology, PMID:37951597)

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