Wilson disease

Inheritance

I have Wilson disease, what is my chance to have an affected child?

All children of an individual living with Wilson disease will be at least carriers of one non-working copy of the ATP7B gene. The chance for the children to have Wilson disease depends on their other biological parent's status: a carrier of non-working copy of the ATP7B gene, affected by Wilson disease, or having two standard copies of the ATP7B gene. If two individuals with Wilson disease have biological children together, all of their children will have Wilson disease. If one individual with Wilson disease has biological children with a partner who is a carrier for one non-working copy of the ATP7B, then the chance is that 50% of their children will have Wilson disease. If one individual with Wilson disease has biological children with a partner who has two working copies of the ATP7B gene, then none of their children will have Wilson disease but all will be carriers of one non-working copy of the ATP7B gene.

To find a genetic professional near you who can discuss the chance for someone with Wilson disease to have a child with Wilson disease and discuss genetic testing options for partners, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website www.acmg.net and genetic counselors can be found on the National Society of Genetic Counselors website: http://www.aboutgeneticcounselors.com/

References
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How is Wilson disease inherited?

How is Wilson disease inherited?

Wilson disease is passed on in families in an autosomal recessive pattern, meaning that for an individual to have the disease they must inherit a non-working ATP7B gene from each parent. Therefore, two non-working copies of the ATP7B gene are required for an individual to have Wilson disease. Carriers do not have Wilson disease, but they have a 50% chance of passing on the non-working ATP7B gene to each of their children. If each parent is a carrier of a mutation for Wilson disease, there is a 25% chance a child will get two normal genes, a 50% chance a child will get one gene mutation but be an unaffected carrier, and a 25% chance a child will have Wilson disease.

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