Will My Child Inherit Gaucher Disease?

If you have Gaucher disease, you will definitely pass one copy of the mutated gene to each of your children ^[1]. However, this does not mean your children will automatically be born with the condition. Gaucher disease follows what is known as an autosomal recessive inheritance pattern ^[2]. This means a child must inherit two mutated genes—one from each parent—to develop the disease ^[3][4]. If your partner does not have a mutated gene to pass on, your children will be healthy carriers of the condition, but they will not have Gaucher disease themselves ^[1].

Understanding “Autosomal Recessive” Inheritance

To understand how Gaucher disease is passed down, it helps to look at the GBA1 gene ^[1]. We all have two copies of the GBA1 gene, one inherited from each parent. This gene provides the instructions for making an enzyme (glucocerebrosidase) that breaks down certain fats in the body ^[2].

• People with Gaucher disease have two mutated copies of the GBA1 gene ^[4][3]. Because you have two mutated copies, you will pass one on to every biological child you have ^[1].
• Carriers have one mutated copy and one normal copy ^[5]. A carrier typically produces enough of the enzyme to stay healthy and does not have symptoms of Gaucher disease ^[6]. Because your child is guaranteed to get one mutated gene from you, they will at least be a carrier ^[1]. Note: While being a carrier means they will not develop Gaucher disease, carrying a mutated GBA1 gene is a known risk factor for developing Parkinson’s disease later in life ^[7][6].

What Are the Chances for Your Children?

The exact risk to your children depends entirely on your partner’s genetics ^[3]. Because your genetics do not change over time, your partner only needs to be tested once. Here is how the math breaks down for each pregnancy:

• If your partner is NOT a carrier: There is a 0% chance that your child will have Gaucher disease ^[1]. Instead, there is a 100% chance your child will be a carrier, inheriting your mutated gene and your partner’s normal gene ^[1].
• If your partner IS a carrier: There is a 50% chance that your child will inherit Gaucher disease (getting the mutated gene from both of you) ^[1]. If they do inherit the disease, their specific type and severity (e.g., Type 1 vs. neuropathic Types 2 or 3) will depend heavily on the exact combination of mutations they inherit from both of you ^[8][9]. There is also a 50% chance they will be a carrier (getting your mutated gene, but your partner’s normal gene) ^[1].
• If your partner also HAS Gaucher disease: There is a 100% chance your children will inherit the disease, as they will receive a mutated gene from both parents.

Next Steps: Genetic Carrier Screening

Because your partner’s genetics determine the risk for your children, the most important next step is for your partner to undergo genetic carrier screening ^[3][1].

Carrier screening is a blood or saliva test that looks for mutations in the GBA1 gene ^[10]. While anyone can be a carrier of Gaucher disease, it is significantly more common in people of Ashkenazi Jewish descent ^[11][12]. It is important to know that standard carrier screening panels sometimes only test for the most common GBA1 mutations seen in the Ashkenazi Jewish population. If your partner is of a different ethnic background, standard panels might miss a rarer mutation. Full sequencing of the GBA1 gene may be necessary to accurately confirm they are not a carrier ^[13].

Meeting with a genetic counselor is highly recommended ^[11][14]. A counselor can help you and your partner arrange the right type of testing and understand your exact risks. If your partner is found to be a carrier, a genetic counselor can also help you explore your options for family planning, which may include:

• In Vitro Fertilization (IVF) with Preimplantation Genetic Testing (PGT): A process to test and select embryos that do not have the disease before a pregnancy begins.
• Prenatal Testing: Testing performed during an active pregnancy to see if the fetus has inherited the disease, such as Chorionic Villus Sampling (CVS) or amniocentesis ^[11][13].