Argininemia

Inheritance

How is argininemia inherited?

Argininemia is inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the ARG1 gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the ARG1 gene from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for argininemia. Carriers do not develop symptoms of the disorder. If two people are carriers, there is a 25% chance with each pregnancy that the child will have the disorder and a 50% chance the child will also be a carrier for the disorder. If you have a family member with argininemia and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options.

References
Show More Content Like This

More Inheritance Content

How likely is argininemia to be passed on in a family?

What does it mean to have inherited a "variant" or "variant of unknown significance" in the gene for argininemia?

How likely is argininemia to be passed on in a family?

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In argininemia, both parents must pass along a nonworking copy of the ARG1 gene. Because of this, argininemia is inherited in what is called an autosomal recessive pattern. People who have one working and one nonworking copy of the ARG1 gene are called carriers. When both parents are carriers, for each individual pregnancy, there is a 25% chance that both parents will pass along a nonworking copy of the gene and the child will have the disorder. There is a 50% chance that one parent will pass on the gene change and the other will not, meaning the child will be a carrier for the disorder. Finally, there is a 25% chance that both parents will pass along a working copy of the gene and the child will not have the disorder and will not be a carrier.

If you are interested in finding out if you are a carrier for argininemia, talk to your doctor about testing or contact a [link url=https://www.nsgc.org/page/find-a-genetic-counselor"]genetic counselor[/link] in your area.

References
What does it mean to have inherited a "variant" or "variant of unknown significance" in the gene for argininemia?

Argininemia is caused by a change (variant) in the ARG1 gene. Not all changes in a gene necessarily cause disease. If a change is known to cause argininemia, it is known as a pathogenic or disease-causing variant. However, sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If you have a variant of unknown significance in the ARG1 gene, talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. To find a genetic counselor near you who can discuss testing and results, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me