2017 Conference All About SATB2

Just about every parent who has a child with SATB2 Associated Syndrome knows Dr. Z. He is the geneticist who is researching this disorder, and made the official SATB2 website, which is HERE.

The website has the best, most accurate information available. At the 2017 conference, Dr. Z gave the most popular presentation, and it was all about answering common SATB2 questions. 

SATB2 TIMELINE

Quick history lesson: The first ever diagnosed case was made by Dr. Glass in 1989. This is why some geneticists call it Glass Syndrome. The SATB2 gene wasn't discovered until 2003. In 2007, the first individual with a mutated SATB2 gene was found.

2014 was when the ball really started rolling. The function of the SATB2 gene was being studied in mice, and the 1st paper on this syndrome was published. 2015 was when Dr. Z got involved. A mom of an affected child emailed him asking for his help.

In 2016/ 2017, we got the official website launched, a UK study was published, and SAS was added to a list of officially recognized rare diseases. We also had our conference in August of 2017, at a hospital in Little Rock, Arkansas.

HOW COMMON IS SATB2?

As of the conference, we had roughly 150 diagnosed people in the world. Which makes you think that the incident rate would be extremely low, right? The assumption was about 1 in 50 million or something.

BUT- this is a new diagnosis, so those who got testing done a couple decades ago wouldn't be diagnosed, and many people with ID (intellectual disability) don't get diagnosed, or are misdiagnosed. Because genetic testing can be very expensive!

But short answer, Dr. Z estimated it is 1/ 33,000.

WHY DOES IT HAPPEN? COULD IT HAPPEN AGAIN?

• Not sure why it is happening, and it seems to be evenly distributed by population
• This syndrome is de novo, but it could happen again
• There is a pair of siblings with parents with normal testing
• Another case has a mutation in a dad with very low levels
• Another case is a pair of siblings with a duplication not found in the parents
• It is estimated at a 2-3% likelihood of having another SAS child 

MAIN FEATURES: Current as of August 2017

41% female

59% male

Known cases, ages are 0-34, mean of 9 years old

Commonly presents with:

• Developmental and speech delays? 100%
• Mean IQ is 46 (32-53)
• Commonly has a broad thumb and big toe
• Brain differences (abnormal EEG, but no clinical seizures)
• Sleep Difficulties
• Fractures
• Balance issues
• Low muscle tone