Mouse Study Sheds Light on Human Neurodevelopmental Disorders

Researchers establish gene-disease association between ASTN1 and range of neurodevelopmental conditions in children

Published on Feb. 11, 2026

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Nearly 30 years of research on the gene Astn1 in mice has helped provide answers to undiagnosed human neurodevelopmental conditions. Researchers at Baylor College of Medicine and collaborating institutions have found that loss-of-function variants in the human ASTN1 gene, which encodes the cell adhesion protein astrotactin 1, cause a broad spectrum of neurodevelopmental disorders in children, including developmental delays, intellectual disability, autism, ADHD, and epilepsy.

Why it matters

The findings strengthen the connection between ASTN1 and neurodevelopmental disorders, providing much-needed answers for families whose children had gone undiagnosed for years. The study highlights how animal research can shed light on human conditions and help advance clinical understanding and care.

The details

Astrotactin 1 is a protein that helps young brain cells migrate to the right locations during brain development. If the ASTN1 gene is defective and the protein doesn't function properly, neurons may not reach the correct places, disrupting brain organization and function. The researchers analyzed genomic data and clinical information from 18 children across 12 families, all of whom had rare defective variants in both copies of the ASTN1 gene. The children exhibited a wide range of symptoms, including developmental delays, intellectual disability, autism, ADHD, and epilepsy. Brain imaging showed structural abnormalities in some cases, such as a thinner or malformed corpus callosum, cerebellum issues, and reduced brain volume.

  • Nearly 30 years ago, researchers began studying the gene Astn1 in mice.

The players

Baylor College of Medicine

A private medical school and research institution located in Houston, Texas.

Texas Children's Hospital

A nationally ranked children's hospital system based in Houston, Texas.

Dr. Daniel Calame

Co-author of the study, instructor of pediatric neurology and developmental neurosciences at Baylor College of Medicine.

Dr. Jesse Levine

Co-author of the study, neuroimmunology fellow in pediatric neurology and developmental neuroscience at Baylor College of Medicine.

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What they’re saying

“Astrotactin 1 is a protein that helps young brain cells move to the right location while the brain is forming. This migration is essential for building the cerebral cortex (thinking part of the brain), the cerebellum (movement and coordination) and the hippocampus (memory). If the gene ASTN1 is defective and astrotactin1 doesn't work properly, neurons may not reach the right places, disrupting brain organization and function.”

— Dr. Daniel Calame, Instructor of pediatric neurology and developmental neurosciences at Baylor College of Medicine (Mirage News)

“We found that ASTN1-related neurodevelopmental conditions range from mild to profound developmental delay or intellectual disability and can be associated with autism, attention-deficit hyperactivity disorder and epilepsy. We also found cases with altered facial features, low muscle tone and balance problems.”

— Dr. Jesse Levine, Neuroimmunology fellow in pediatric neurology and developmental neuroscience at Baylor College of Medicine (Mirage News)

What’s next

The researchers plan to continue studying the role of ASTN1 and related genes in neurodevelopmental disorders, with the goal of improving diagnosis and potentially developing new treatments.

The takeaway

This study demonstrates the power of translating findings from animal research to human health, providing much-needed answers for families whose children had gone undiagnosed. The wide range of neurodevelopmental symptoms associated with ASTN1 variants highlights the complex and varied nature of these conditions, underscoring the importance of continued research in this area.