- How do you inherit PXE?
- What is a PXE carrier and do they have symptoms?
- I have PXE and I want to have children. Will I pass PXE on to my children?
- Is genetic testing for PXE available?
- What is genetic counseling, and how would it help with family planning?
PXE is inherited in an autosomal recessive way. For a full explanation of how PXE is inherited, complete with color-coded examples of each potential combination of parents (not a carrier, carrier, affected by PXE), read PXE and Inheritance. [April 2006]
A PXE carrier is someone who has a mutation in one of their two ABCC6 genes. A person with PXE has a mutation in both copies of the gene, so he or she will always pass one mutation on to every child. For a full explanation and examples of how PXE is inherited, read PXE and Inheritance.
Research suggests that carriers do not have clinical signs of PXE. If you are concerned that you might have PXE yourself, an ophthalmologist can examine your eyes for signs called peau d´orange and angioid streaks. Almost every person with PXE will have one or both of these signs. Learn more about PXE and find information to share with your doctor. [April 2006]
Because you have PXE, we know that both of your ABCC6 genes have a mutation, so you will pass on one mutation to every child you have. Because PXE is a recessive genetic disorder, a person who has only one mutation is a carrier of PXE, but does NOT have PXE. So every child you have will be a carrier of PXE. Everybody in the world is a carrier for a dozen or more recessive genetic diseases, but they will never have the disease, so they usually don´t know they are carriers.
The chance that your children will actually have PXE depends on whether your spouse is a carrier of a mutation for PXE. Your spouse would not know it, because carriers of PXE do not have PXE. If your spouse IS a carrier of PXE, the chances of having a child with PXE are 50%, each pregnancy. Example 3 in the PXE and Inheritance bulletin illustrates this. If your spouse is NOT a carrier of PXE, then the chances of having a child with PXE are 0%, but the chances of having a child who is a carrier of PXE are 100%. Example 4 in the Inheritance and PXE bulletin illustrates this.
There is a genetic test for PXE and it could tell whether your spouse is a carrier, but it has limitations. It would cost about $3500 and in about 25% of people, if there were no mutations found, it is still possible that a mutation is there but was not detected. If you are interested in genetic testing, it would be useful to consult a genetic counselor first. [December 2009]
PXE International has worked for many years to develop an accurate genetic test for pseudoxanthoma elasticum. The test is now available through the testing laboratory GeneDx. All necessary forms and additional information can be found at Genetic Testing and PXE. [January 2008]
Traditionally, a genetic counselor has a masters degree in genetic counseling and has studied genetic diseases and how those diseases run in families. The genetic counselor can help a person or family understand their risk for genetic conditions (such as PXE, cystic fibrosis, cancer, or Down syndrome), educate the person or family about that disease, and assess the risk of passing those diseases on to children.
You deserve to have correct information in order to make the right decision for your future. Seek genetic counseling with a trained and certified Genetic Counselor. Ask your doctor for a referral to a Genetic Counselor, or find one by searching the link below.
Find answers to other genetic counseling questions at the Genetic Health website.
- What Is a genetic counselor?
- Who sees a genetic counselor
- What happens at a genetic counseling session?
Read about how to find a genetic counselor here.
If you can´t get Genetic Counseling through your health plan, contact PXE International as we may be able to help you access genetic counseling. [July 2015]
These are replies to general and specific questions which have been submitted to us in the past. Our responses may not apply to any particular individual´s situation and are not a substitute for medical advice given by a physician who is familiar with the individual´s case and who has examined the patient. In addition, the responses are updated on a periodic basis but may not be current.