Below is a summary for the POMGNT1 gene observed in research publications. This is not meant to take the place of medical advice.
What is POMGNT1 -related syndrome?
POMGNT1 -related syndrome happens when there are changes to both copies of the POMGNT1 . These changes can keep the gene from working as it should.
POMGNT1 -related syndrome is also called muscular dystrophy-dystroglycanopathy, and some genetic variants cause another condition called retinitis pigmentosa. The information here focuses on POMGNT1 genetic variants that cause muscular dystrophy-dystroglycanopathy. This condition was formerly known as Walker-Warburg syndrome or muscle-eye-brain disease.
The POMGNT1 protein is an enzyme that plays an important role in modifying proteins in the cell.
Because the POMGNT1 gene is important for many parts of the body, some people may have:
- Intellectual disability
- Low muscle tone
- Brain changes seen on magnetic resonance imaging (MRI)
- Motor development issues
- Walking problems
- Vision issues and eye formation defects
Do people who have POMGNT1 -related syndrome look different?
People who have POMGNT1 -related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Smaller than average head size
- Joint issues
- Undersized lower jaw
How many people have POMGNT1 -related syndrome?
As of 2022, at least 118 people with POMGNT1 -related syndrome have been identified in a medical clinic.
Research Article Summaries