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.
The BCL11A gene plays a key role in the basic functioning of the cell.
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.
Everyone studied to date that has BCL11A-related syndrome has developmental delay and some level of intellectual disability, ranging from mild to severe.
Everyone studied to date has some speech delay.
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.
Research Article Summaries