EBF3-Related Conditions

 

The HADDS Foundation recognizes those living with EBF3-related conditions, such as 10q26 deletion syndrome, and welcomes them to use the Foundation as a resource and connection point for research, support, and advocacy. Many families have contacted the Foundation because their loved one has similar characteristics as an individual living with HADDS. We have created this page to recognize the conditions and promote inclusion in the wider 10q community.

 

What is an EBF3-Related Condition?

 

EBF3 is a gene that resides on the q arm of the 10th chromosome on section 26.3. It is considered a “master controller” gene that helps control the function of many other genes around it, and their functions. When something is wrong with EBF3, or it is missing, it can vastly impact other functions within our DNA as a result. 

 

 

 

 

 

 

 

 

 

 

 

 


 

 

 

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HADDS occurs as a result of a variant, also called a mutation, within one copy of the EBF3 gene, which affects the way it functions. A genetic syndrome that shares many characteristics with HADDS, called 10q26 deletion syndrome, is when a person is missing a section on one copy of their chromosome 10. 

In HADDS, EBF3 is present, but acts differently than what is typical. In a 10q26 deletion, along with potentially many other genes, EBF3 is not present on one chromosome and therefore, cannot do its job of controlling the other genes as well as it should.  10q26 deletion syndrome is a distinct condition. However, due to the importance of EBF3 to the surrounding genes, there is significant overlap in the experiences and presentation of these two conditions. Including 10q26 deletion syndrome families into the HADDS community is important in our understanding of EBF3 in the research setting, as well as due to our shared experiences. 

In the future, more conditions may be more closely associated with HADDS syndrome and EBF3 as a result of the ongoing research.

In the above diagram, the q arm of the 10th chromosome is visually represented. A person with HADDS has EBF3 variation affecting the gene itself, located within the 26.3 section. A person with 10q26 deletion syndrome would be missing different segments of DNA in this region.

 

Information included above is credited to The Chao Lab’s 2022 publication “General FAQs for EBF3-Related Conditions”


The 10th chromosome visual above is credited to from Unique Rare Chromosome Support Group’s Publication 10q25 and 26 Deletions Version 2.1 in 2013.

The Chao Lab & research team, located in Houston, TX at the Jan and Dan Duncan Neurological Research Institute (NRI), have created two helpful visual aids for 10q26 Deletion Syndrome & EBF3 conditions.

 

To download a PDF of this, click on the images below. 

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2022_Paper_Summary_Pamphlet_Final_MCK_Page_2.png
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Additional 10q Facebook Community Groups 

Scan the QR codes below for direct connection to these groups. 

         Chromosome 10q26 Deletion                Chromosome 10 Disorder

If you are interested in participating in the study, email Chao-Lab@bcm.edu

References:

Information included above is credited to The Chao Lab’s 2022 publication “General FAQs for EBF3-Related Conditions”

 

Visual representation of the 10th chromosome from Unique Rare Chromosome Support Group’s Publication 10q25 and 26 Deletions Version 2.1 in 2013