About the Genetics
Breaking it down
First... what is a genetic disorder?
A genetic disorder happens when a gene (or genes) have something wrong with them which creates a health problem(s).
So... What are genes?
Genes are pieces of DNA that are found in every cell. Each person has roughly 20,000 different genes!
​
Check out this short video created by The Nonsense Mutations Foundation to learn more.
​
​
ANKRD11
The ANKRD11 gene is probably why you are here to learn more about KBG Syndrome. This gene provides instructions for making a protein called ankyrin repeat domain 11 (ANKRD11).
​
It contains domains that are found in certain proteins. These proteins help other proteins interact with one another and control what genes are turned on and off. They also may enhance activity of certain cells.
When something is changed or deleted on the ANKRD11 gene... you get KBG Syndrome.
.png)
How is it inherited?
.png)
Diagnosing KBG Syndrome
KBG Syndrome may be suspected after a detailed clinical exam and discussion of patient and family history.
It may also be identified through genetic sequencing panels. Most individuals are diagnosed after seeing a physician who orders genetic testing.
Time to diagnosis can be months to years with some individuals being diagnosed as infants while others are diagnosed later in life after their child has been diagnosed.
How old are most individuals when diagnosed?
Symptoms are most prominently identified during the Newborn to Adolescent years. As technology advances cases are being discovered earlier and earlier and there have been reported cases being found during the prenatal period.
_edited.jpg)