15q 26.2 Deletion
What is 15q 26.2 Deletion?
When a small piece of DNA is missing from chromosome 15, a genetic condition called 15q26 deletion occurs. This leads to affected development, feeding, growth, and sometimes health in individuals with this genetic change. 15q26.2 Deletion occurs when there is a break found in the 15q26.2 band of the chromosome.
What is the prevalence of 15q 26.2 Deletion?
The occurrence of 15q26.2 deletion is very rare, as there is no obvious reason for the condition. Currently, no environmental, dietary, workplace or lifestyle factors are known to cause these genetic changes. However, somebody who has 15q26.2 deletion has a 50% chance of passing it on in each pregnancy. Accurate prevalence information for this chromosomal change is currently unavailable.
How is 15q 26.2 Deletion diagnosed?
When health problems such developmental delays are noticed, there is a possible chance of chromosome anomaly. Then, a person’s chromosomes are checked. Oftentimes, babies are very small and their growth fails to catch up.
Is there any specific gene/pathway in 15q 26.2 Deletion that has been identified?
There are two genes in the 15q26.2 region that are currently known: NR2F2 and SPATA8. NR2F2, also known as Coup-TFII, is believed to be essential for normal diaphragm and heart development. The SPATA8 gene is suggested to have a role in determining how severely people are affected by deletions of 15q. More research is required for both genes.
How is 15q 26.2 Deletion treated?
At this time, treatments mainly only exist for the symptoms of 15q26.2 deletion, including but not limited to heart, kidney, epilepsy, and growth hormone treatment.
Are there any clinical trials underway for 15q 26.2 Deletion?
There are currently no clinical trials underway for 15q26.2 deletion.
How can RareShare be helpful to 15q 26.2 Deletion patients and families?
The 15q26.2 deletion RareShare community has 153 members. There are currently 2 active discussions underway, helping to connect patients, health workers, caregivers and families interested in 15q26.2 deletion and providing them continual access to community resources.
RareShare, MGCI Cancer Society and RGI Chapter