Gaucher Disease Inheritance and Genetics

While Gaucher disease (pronounced go-SHAY) affects people of all ethnic backgrounds, it is especially common in the Ashkenazi (Eastern European) Jewish population. Testing for Gaucher disease as well as prenatal screening and genetic counseling can help you determine the risk of passing the Gaucher gene to your children.

Jewish & Ashkenazi Genetic Diseases

Although Gaucher is pan-ethnic, Gaucher disease type 1 is the most prevalent inherited Jewish genetic disease. A number of genetic disorders occur more frequently in certain ethnic populations. In the Ashkenazi Jewish population (Eastern, Central and Northern European ancestry), it has been estimated that one in four individuals is a carrier of one of several genetic conditions.

These diseases include Tay-Sachs Disease, Canavan, Niemann-Pick, Gaucher, Familial Dysautonomia, Bloom Syndrome, Fanconi anemia, Cystic Fibrosis and Mucolipidosis IV. Some of these diseases may be severe and may result in the early death of a child. Carrier screening is available for all of these diseases with a blood test. Two carriers of the same disease have a 1 in 4 risk with each pregnancy of having a child affected with the disease for which they were identified as carriers.

Learn more about inherited Jewish genetic diseases, or find out about prenatal screening and genetic counseling for Gaucher disease.

How Is Gaucher Disease Passed Down?

Gaucher disease is an autosomal recessive disorder. That means a person must receive the Gaucher gene from both parents in order to have the disease.

Most genes exist in pairs, with one coming from the mother and the other from the father. When one Gaucher gene in the pair is abnormal, the child is an asymptomatic carrier who can pass that abnormal gene to his or her children. When both genes in the pair are defective, a person will have Gaucher disease.

What does this mean for a parent who has Gaucher disease?

  • If your partner does not have the Gaucher gene: Each of your children will be carriers.
  • If your partner is a carrier of the Gaucher gene: Each child will have a 50 percent chance of having Gaucher disease and a 50 percent chance of being a carrier.
  • If your partner also has Gaucher disease: Each of your children will have Gaucher disease.

The chart below shows how parents pass the Gaucher gene to their children.

 

What Is Gaucher Disease Carrier Status?

A person who has just one Gaucher gene is called a carrier. Carriers do not have Gaucher disease, nor do they experience symptoms. However, carriers can pass the Gaucher gene to their children.

When both parents are carriers, each pregnancy has a 1 in 4 chance that the baby will be born with Gaucher disease. A carrier having a child with someone who has Gaucher disease also increases the risk. Genetic counseling can help you understand these risks. Learn more about the genetics of Gaucher disease carrier status, or find out about prenatal screening and genetic counseling for Gaucher disease.

What If I Experience Symptoms?

A true carrier will not experience symptoms of Gaucher disease. If you have symptoms like enlarged spleen or severe bone pain, you may need retesting and/or evaluation for a different condition associated with these signs and symptoms.

Researchers have linked more than 400 genetic mutations to Gaucher disease. Doctors now screen for more genetic mutations than they did decades ago, so it is possible in rare cases that a person with Gaucher disease may have been misdiagnosed as a carrier. In these cases, an enzyme test called a beta-glucosidase leukocyte (BGL) test will generally show whether or not you have Gaucher disease. Find out more about testing for Gaucher disease.

Which Genetic Mutations Are Most Severe?

Scientists have identified more than 400 genetic mutations associated with Gaucher disease. Certain genetic mutations can cause more severe symptoms, but genetics alone do not determine disease severity.

Here are some factors scientists have identified about genetic mutations associated with Gaucher disease:

  • Having 2 copies of the L444P mutation causes neurological symptoms and is related to Gaucher disease types 2 and 3.
  • Patients with 1 copy of an N370S mutations plus another mutation almost certainly will have Gaucher disease type 1.
  • Patients with 2 copies of the N370S mutation may have a milder form of Gaucher disease than people with just one N370S copy plus another mutation.

Additional Resources on Genetic Diseases

If you are looking for additional information on genetic diseases, you may find these resources helpful:

  • ThinkGenetic: ThinkGenetic is an interactive app and website that provides personalized, research-based answers to questions about genetic diseases.
  • National Society of Genetic Counselors: The National Society of Genetic Counselors is an online directory where you can search for a genetic counselor in your area.
  • JScreen: JScreen is a nonprofit public health initiative that provides easy home test kits for people of Jewish descent. Genetic counselors from Emory University School of Medicine assess the results and provide additional information and resources.
  • Center for Jewish Genetics: The Center for Jewish Genetics is an educational resource for hereditary cancers and Jewish genetic disorders. The center offers subsidized genetic counseling and screening.
  • Jewish Genetic Disease Consortium: The Jewish Genetic Disease Consortium is an alliance of nonprofits that encourages genetic screening for everyone who has any Jewish heritage.
  • Victor Center for the Prevention of Jewish Genetic Diseases: The Victor Center for the Prevention of Jewish Genetic Diseases provides affordable genetic counseling and screening for healthy people who are at risk of being carriers.
  • Genetic Disease Email Discussion List: The Genetic Disease Email Discussion List is a great way to connect with others interested in Gaucher disease. You need a Yahoo email address to sign up, and administrators will have to approve your request to join. Subscribers include patients, health professionals, researchers, family members and religious leaders.

Find out more about resources for Gaucher disease patients and families.

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