Below is a summary for the MBOAT7 gene observed in research publications. This is not meant to take the place of medical advice.
What is MBOAT7-related syndrome?
MBOAT7-related syndrome happens when there are changes in both copies of the MBOAT7 gene. These changes can keep the gene from working as it should.
The MBOAT7 protein is important for mitochondria, which are the powerhouse of the cell.
Because the MBOAT7 gene is important for the brain, some people may have:
- Low muscle tone
- Issues with walking
- Difficulty with speech
- Brain changes seen on magnetic resonance imaging (MRI)
Do people who have MBOAT7-related syndrome look different?
Most people who have MBOAT7-related syndrome do not look different. Some people have a smaller than average head size.
How many people have MBOAT7-related syndrome?
As of 2022, at least 47 people in the world with MBOAT7-related syndrome have been described in medical research.
- Simons Searchlight Community – MBOAT7 Facebook group
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
There is currently no GeneReviews for MBOAT7.
Research Article Summaries
We currently do not have any article summaries for MBOAT7, but we add resources to our website as they become available.
The information available about MBOAT7 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for MBOAT7 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Help the Simons Searchlight team learn more about MBOAT7 genetic changes by taking part in our research. You can learn more about the project and sign up here.
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