AFF2

Below is a summary for the AFF2 gene observed in research publications. This is not meant to take the place of medical advice.

Access the Full AFF2 Gene Guide

The online Gene Guide includes more information about AFF2 such as the chance of having another child with this condition, behavior and development concerns linked to AFF2 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is AFF2 -related syndrome?

AFF2 -related syndrome happens when there are changes to the AFF2 gene. These changes can keep the gene from working as it should. The AFF2 gene is also called FMR2 or FRAXE.

Key Role

The AFF2 gene plays a key role in brain development.

Symptoms

Because the AFF2 gene is important in the development and function of brain cells, many people who have AFF2 -related syndrome have:

Intellectual disability
Developmental and speech delays
Autism or features of autism
Hyperactivity and attention difficulties
Behavior issues

Support Resources

Simons Searchlight Community – AFF2 Facebook group

GeneReviews

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 AFF2 .

Research Article Summaries

We currently do not have any article summaries for AFF2, but we add resources to our website as they become available.

The information available about AFF2 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 AFF2 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about AFF2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from AFF2 families.

Click here to share your family’s story!

Sources and references

The content in this guide comes from published studies about AFF2-related syndrome. Below you can find details about each study, as well as links to summaries or, in some cases, the full article.

Knight SJ. et al. Cell, 74, 127-134, (1993). Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation www.ncbi.nlm.nih.gov/pubmed/8334699
Abrams MT. et al. American Journal of Medical Genetics, 74, 73-81, (1997). Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE www.ncbi.nlm.nih.gov/pubmed/9034011
Stettner GM. et al. American Journal of Medical Genetics Part A, 155A, 2003-2007, (2011). Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion www.ncbi.nlm.nih.gov/pubmed/21739600
Correia F. et al. Journal of Autism and Developmental Disorders, 45, 888-892, (2015). Autism spectrum disorder: FRAXE mutation, a rare etiology www.ncbi.nlm.nih.gov/pubmed/25035088