Morbus Wilson gene mutation ATP7B H1069Q
This genetic test Morbus Wilson mutation ATP7B H1069Q can be used to determine whether there is a hereditary Wilson disease.
(Code WILEPC - Material EDTA - Attach Informed Consent)
You can get this autosomal recessive disorder if both of your parents have passed an abnormality (mutation) in the same gene to you.
Parents who are carriers of the mutation have one version of the gene with, and one without the mutation. They are not sick, because the healthy gene (without the mutation) predominates. But they can pass on the mutation.
If both parents have a mutation on a particular gene, there is always a 25% chance that they will both pass it on to their child. There is also a 25% chance that the child will not inherit the mutation, and a 50% chance that the child will be a carrier.
For your chance of getting or passing on an autosomal recessive disease, it does not matter whether you are a man or a woman.
This gene mutation occurs in about 1:35,000. The defect is caused by mutations in the ATP7B gene in chromosome 13 (13q14.3). The H1069Q mutation is most common in Europe (about 40% of cases).
This gene mutation disrupts the transport function for copper and can cause copper to accumulate in various tissues (liver, central nervous system, cornea, kidney) causing symptoms such as liver cirrhosis, Kaiser-Fleischerscher Cornealring (brownish-yellow ring around the iris of the eye). Neurological and psychiatric symptoms may also develop. The disease usually manifests itself in childhood.
For this test, it is necessary to attach a consent form.