DNA and Inheritance: The Genetic Basis of Batten Disease

What is autosomal recessive inheritance?

Some medical problems are caused by having two mutations in the same gene, one inherited from each parent. This inheritance pattern is called autosomal recessive. In this case, people with only one mutation are referred to as carriers, and usually have no medical problems related to the mutation.

About Ambry Genetics

Ambry Genetics is committed to providing friendly, knowledgeable client services and high quality research and development in a cutting-edge environment. Since our founding in 1999, our test menu has grown to become one of the most comprehensive in the world and our reputation remains impeccable in the genetics industry. We are proud to work with the Batten Disease Support and Research Association. It is an honor to support their mission to improve the lives of individuals and families with Batten disease.

What are genes and how are they inherited?

How is Batten disease inherited?

Each of us has about 20,000 genes in total, organized into structures called chromosomes. We have a complete set of all these genes in every cell in our body. Our chromosomes are stored inside the nucleus of the cell.

Our genes are responsible for telling our bodies how to grow, develop, and work. We inherit one copy of most of our genes from our mother and our father. Everyone has changes in their genes and that’s what makes us unique. However, some changes (called mutations) can cause our body not to work properly and lead to medical problems.

parent. Parents of a person with Batten disease are considered carriers because they each have one mutation and no associated medical problems. Siblings of people with Batten disease who are not affected may be carriers, or may not have inherited any mutations from their parents. Genetic testing can help to tell the difference.

Batten disease follows an autosomal recessive inheritance pattern. It is caused by the combination of two mutations, one that is inherited from each

When two parents are carriers for the same autosomal recessive disorder, there is a 1 in 4 (or 25%) chance in each pregnancy that the baby will inherit both mutations from the parents and have medical problems. It is also possible that the baby will inherit only one mutation and be a carrier (like his/her parents), or that the baby will inherit no mutations.

How can genetic testing help?

Genetic testing can help with: •  Confirming a suspected diagnosis of

Batten disease •  Determining carrier status for siblings •  Allowing for genetic testing to help

those considering/having children

Genetic testing can find mutations that cause Batten disease. Right now, there are many genes that can be involved. This makes testing important to help find out which gene is involved. So far, all genes are inherited in an autosomal recessive pattern.

autosomal recessive

Carrier motherCarrier father

Unaffected child Affected childCarrier child Carrier child

Unaffected CarrierAffected

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