EHMT1 Variants and Kleefstra Syndrome: How Structure Shapes Neurodevelopmental Risks
Official title: Insights into EHMT1 Variants in the Neurodevelopmental Disorder Kleefstra Syndrome through Structural Dynamics and Functional Analysis
Funded at Mayo Clinic Arizona · NIH-11550900 · Data updated 2026-11-12
A small NIH grant will explore how genetic changes in EHMT1 affect brain development in Kleefstra Syndrome using computer models and analysis of protein structure.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Arizona NIH-funded |
| Lab location | 1 site (Scottsdale, United States) |
| Project start | June 1, 2026 |
| Project end | May 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $194,527 |
| NIH project number | 7R21HD116120-02 |
| Project ID | NIH-11550900 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Kleefstra Syndrome or with EHMT1 variants, especially in the ankyrin repeat or SET domains, who may benefit from clearer variant classification.
✕Less likely to help
Individuals without EHMT1 variants or KS-related features may not directly benefit from this study.
What this research studies
This project focuses on understanding how variations in the EHMT1 gene influence the behavior of neural development seen in Kleefstra Syndrome. Researchers will analyze how changes in the ankyrin repeat and SET domains alter EHMT1’s ability to read and write histone marks, using computational methods to map structure to function. The aim is to reclassify uncertain variants and uncover links between structure, function, and disease, which could inform future diagnostic and therapeutic directions. The work builds on prior computational phenotyping and seeks to deepen our understanding of KS at the molecular level.
Why it matters
Potential benefit: Better interpretation of EHMT1 variants could lead to improved diagnostic clarity and inform future targeted therapies for Kleefstra Syndrome.
How similar studies have gone: Previous deep-variant analyses have helped reclassify KS-associated variants, suggesting this approach is promising for variant interpretation.
Where this research is happening
-
Mayo Clinic Arizona
Scottsdale, United States Active
Researchers
- Principal investigator: Urrutia, Raul a. — Mayo Clinic Arizona
- Study coordinator: Urrutia, Raul a.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.