What is White Sutton Syndrome?

White Sutton Syndrome (WHSUS) is a condition characterized by autism and developmental delay and/or intellectual disability, as well as a characteristic facial profile. Children may also have speech and language delay, motor difficulties, vision problems, hearing loss, seizures, gastrointestinal problems, obesity, anxiety, and attentional problems.

While there are some reports of it being passed from parent to child, WHSUS is typically a “de novo” genetic change, meaning it is most often a spontaneous change, rather than an inherited one. WHSUS may also be referred to as a POGZ mutation due to the location of the de novo change on the POGZ gene. Included below are a few reference sources recommended by our medical advisory board. If you know someone who’s been recently diagnosed, you can find more in-depth information about WHSUS here.


Genetics Home Reference: WHSUS

The U.S. National Library of Medicine’s Genetics Home Reference is a great place to find information about genetic conditions that can be understood by everyday people.

Go to the Genetics Home Reference

Glossary of Genetic Terms

When reading medical literature about WHSUS, you’re likely to come across a variety of unfamiliar terms. The National Library of Medicine has a useful glossary that you’ll want to bookmark to use as a reference.

Go to the Genetic Terms Glossary

POGZ: a Simple Explanation

The POGZ gene helps guide production of a protein found in the cell nucleus. The POGZ protein is a zinc finger protein and contains at least one region that is commonly referred to as a zinc finger (ZNF) domain. The specific structure of the ZNF domain makes it inherently stable and allows it to attach to other molecules.

The POGZ protein aids in the packaging of DNA into chromosomes In the cell nucleus. Specifically, it attaches to chromatin, altering how tightly regions of DNA are packaged. Doing so helps regulate the extent to which a particular gene is expressed; tightly-packed DNA results in lower gene expression. While geneticists believe that POGZ’s role in regulating gene expression is important to brain development, the specific function that POGZ serves in the brain is still being determined.

Read More About POGZ