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Related Experiment Video

Updated: Jun 20, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.

Keiko Shimojima¹, Yuta Komoike, Jun Tohyama

¹International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.

|September 8, 2009

Summary

A novel microdeletion linked to developmental delay and epilepsy was found. This deletion impacts the TULIP1 gene, suggesting its crucial role in brain development.

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Area of Science:

Genetics
Neuroscience

Background:

A patient presented with developmental delay and intractable epilepsy.
Genetic analysis revealed a novel 2.2-Mb microdeletion at 14q13.1q13.3.

Observation:

The deletion encompassed 15 genes, with TULIP1 (RALGAPA1) being highly expressed in the brain.
Reduced TULIP1 levels were detected in the patient's lymphocytes, indicating TULIP1 haploinsufficiency.

Findings:

Screening 140 patients identified four missense mutations in TULIP1.
A P297T mutation, found in a conserved region, correlated with reduced TULIP1 levels.
Zebrafish studies showed TULIP1 is highly expressed in the brain and its knockdown causes developmental delay.

Implications:

TULIP1 is implicated as a candidate gene for developmental delay.
This finding expands the understanding of genetic contributions to neurodevelopmental disorders.
Further research into TULIP1 function may reveal therapeutic targets.