What is the Cause of Williams Syndrome and its Symptoms?

By Meg Collins, Ph.D.

by U.S. Embassy Tel Aviv under CC BY-SA  with wpseopix.com

Discussing Williams Syndrome

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Williams Syndrome is a rare genetic condition caused by a small deletion of genetic material from one copy of chromosome 7.

If you’re searching for information about this syndrome, the chances are that you know someone affected by symptoms, a Williams person, and are wondering just how this happened.

I’d like to take a few minutes to explain some of the basic ideas that might help you understand the science behind the causes of Williams Syndrome (WS). If you’re the parent of a child with Williams Syndrome symptoms or a positive diagnosis of WS, this might help to put your mind at rest especially if you’re beginning to wonder “Is it my fault?”.

All our genes are inherited in our chromosomes and contain the biological instructions about how to make our bodies. We get one set of chromosomes from our Mom, another from our Dad. That means we have two copies of most genes in our bodies.

In a person affected by WS, somewhere along the line, possibly in the formation of the egg or the sperm cell or maybe very early after conception, a random event deletes a small piece from one copy of chromosome 7.

The size of the missing piece is slightly different in different people, but it often removes or deletes approximately 20 to 30 genes. The affected person then has only one copy of these genes on the other unaffected chromosome rather than the normal two copies.

The absence of these genes on chromosome 7 causes the many different effects we see in a Williams person. One gene that is central to this deletion and is absent in a majority of people affected by Williams Syndrome symptoms is the gene for making a protein called elastin. If you thought that sounds a bit like “elastic” you’d be right.

This protein elastin occurs in types of muscle associated with things like the heart and blood vessels and the fact that Williams people have only one copy not two, contributes to the fact that many have conditions which affect their cardiovascular system or blood vessels.

Note: Some people who don’t have WS, do have a mutation in their elastin gene and this is also associated with narrowing of their arteries.

Many Williams Syndrome symptoms are associated with a narrowing of the arteries, probably caused by this one missing elastin gene. It leads to conditions such as aortic stenosis or renal artery stenosis. Don’t worry if you don’t know what that means just yet, it’s something a doctor can and should check for and a great place to start is by making a simple blood pressure measurement as many people with WS have high blood pressure.

In WS, there are many other missing genes. The functions of these are not yet fully understood, but we know that some are associated with speech and language development, some are involved with co-ordination of movements or with visuo-spatial processing. Together the absence of these genes contributes to the different Williams Syndrome symptoms commonly seen. Verbal fluency and over-friendliness, learning disabilities, clumsiness or poor co-ordination.

If you’re interested in a more detailed discussion of the symptoms of Williams Syndrome or understanding how a “simple deletion” can have such a wide range of profound effects look out for other special science reports written especially for people living with or caring for a Williams person.

About the Author:   I’m Meg Collins and my sister is a person affected by Williams-Beuren Syndrome. I’ve seen these symptoms first hand and have experienced living with and caring for someone affected by this complex syndrome. Why not visit http://WilliamsSyndromeAdult.com to see the other resources explaining the science, the symptoms and implications for caring for a Williams person. —-

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