BCL11A

Below is a summary for the BCL11A gene observed in research publications. This is not meant to take the place of medical advice.

What is BCL11A-related syndrome?

BCL11A-related syndrome happens when there are changes to the BCL11A gene. These changes can keep the gene from working as it should. BCL11A-related syndrome is also called Dias-Logan syndrome. People who have a related syndrome, called 2p15p16.1 deletion syndrome, have a genetic change that can affect several genes, including the BCL11A gene.

Key Role

The BCL11A gene plays a key role in the basic functioning of the cell.

Symptoms

Because the BCL11A gene is important in the development and function of brain cells, many people who have BCL11A-related syndrome have:

Developmental delay
Low muscle tone
Small head

Do people with BCL11A-related syndrome look different?

This can depend on age. Younger boys who have BCL11A-related syndrome may not look different. One study found that older boys who have the syndrome often had a long face with a straight nose and a pointed chin.

Genetic variants in BCL11A

You may have seen reports of people with cancer having genetic variations in BCL11A. In general, genetic variants that are linked to BCL11A-related syndrome are different from genetic variants that are associated with cancer. Genetic variants that are linked to BCL11A-related syndrome do not increase the risk of cancer in a person.

Learning

Everyone studied to date that has BCL11A -related syndrome has developmental delay and some level of intellectual disability, ranging from mild to severe.

Speech

Everyone studied to date has some speech delay.

Blood

Everyone studied to date that has BCL11A -related syndrome has high levels of fetal hemoglobin, a protein found in red blood cells. However, this does not seem to cause symptoms or blood disorders.

Learn more about the BCL11A and connect with other Simons Searchlight families with the resources below.

Support Resources

Simons Searchlight Community – BCL11A Facebook group
Geisinger Developmental Brain Disorder Gene Database – BCL11A

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. Check out the GeneReviews for BCL11A -related intellectual disability.

Research Article Summaries

Below, we have summarized research articles about changes in the BCL11A gene. We hope you find this information helpful.

The information available about BCLL1A is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 BCLL1A articles can be found here.

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

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Original research article by A. Basak et al. (2015).

Read the article here and the Simons Searchlight summary here.

Brain malformations in a patient with a deletion 2p16.1: A refinement of the phenotype to BCL11A

Original research article by T. Balci et al. (2015).

Read the abstract here and the Simons Searchlight summary here.

De novo microdeletion of BCL11A is associated with severe speech sound disorder

Original research article by B. Peter et al. (2014).

Read the abstract here or the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about BCL11A 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.

Family Stories

Stories from BCL11A families:

Click here to share your family’s story!