Below is a summary for the NEXMIF gene observed in research publications. This is not meant to take the place of medical advice.
What is NEXMIF-related syndrome?
NEXMIF-related syndrome happens when there are changes to the NEXMIF gene. These changes can keep the gene from working as it should. The NEXMIF gene was previously called KIAA2022.
The NEXMIF gene plays a key role in brain cell growth.
Because the NEXMIF gene is important in the development and function of brain cells, many people who have NEXMIF-related syndrome have:
- Intellectual disability
Do people who have NEXMIF-related syndrome look different?
People who have NEXMIF-related syndrome may look a little bit different. Hooded eyelids are the most common feature.
How many people have NEXMIF-related syndrome?
As of 2021, doctors had described about 90 people in the world with changes in the NEXMIF gene. The first case of NEXMIF-related syndrome was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Almost everyone studied to date has a developmental delay or intellectual disability (86/87 or 99%). Developmental issues tend to be worse in males.
Language issues are common. In males, more than one-half did not speak (57%). One-quarter used single words (25%). Fewer than one-fifth used simple sentences (17%). In females, one-tenth did not speak (10%). Fewer than one-fifth used single words (17%). Almost three-quarters used simple sentences (73%).
Three-quarters of males have autism or symptoms of autism (75%).
Fewer than one-half of females have autism or symptoms of autism (46%).
More than three-quarters of males have behavior issues (79%). Two-thirds of females have behavior issues (67%).
Learn more about the NEXMIF gene and connect with other Simons Searchlight families with the resources below:
- Simons Searchlight Community – NEXMIF Facebook group
- Nexmif Italia ODV – www.nexmif.it/en
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 are currently no GeneReviews for NEXMIF.
Research Article Summaries
We currently do not have any article summaries for NEXMIF, but we add resources to our website as they become available.
The information available about NEXMIF 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.
- de Lange IM. et al. Journal of Medical Genetics, 53, 850-858, (2016). De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy, www.ncbi.nlm.nih.gov/pmc/articles/PMC5264224.
- Stamberger H. et al. Genetics in Medicine, Epub ahead of print, (2020). NEXMIF encephalopathy: An X-linked disorder with male and female phenotypic patterns, www.nature.com/articles/s41436-020-00988-9.
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 NEXMIF 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 NEXMIF genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
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