Do unclear changes in the ANKRD17 gene cause neurodevelopmental problems?
In vivo assessment of variants of uncertain significance in the intellectual disability gene ANKRD17
This project checks whether unclear (uncertain) changes in the ANKRD17 gene lead to neurodevelopmental disability so families and doctors can better understand genetic test results.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11182583 on NIH RePORTER |
What this research studies
If a child has a genetic change in ANKRD17 that experts cannot classify, this project uses living models to see what those changes do to development. Researchers will introduce specific uncertain ANKRD17 variants into mice and observe whether those changes produce developmental or cardiovascular effects similar to what is seen in humans. The team focuses on variants that likely reduce gene activity (haploinsufficiency) and uses a rapid in vivo testing strategy because full gene loss is lethal in mouse embryos. The results will provide experimental evidence that could help clinical labs reclassify uncertain variants under standard guidelines.
Who could benefit from this research
Good fit: Ideal candidates are people (often children) with neurodevelopmental disability who carry an ANKRD17 variant currently labeled as a variant of uncertain significance.
Not a fit: Patients without an ANKRD17 variant or whose ANKRD17 variant is already classified as clearly pathogenic or clearly benign are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could help reclassify ANKRD17 uncertain variants so families receive clearer diagnoses and guidance.
How similar studies have performed: Similar animal-model approaches have clarified variant effects for some other genes, but applying this in vivo strategy to ANKRD17 is new and exploratory.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Warman, Matthew L — Boston Children's Hospital
- Study coordinator: Warman, Matthew L
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 below.