Adrenoleukodystrophy

Inheritance

What does it mean to have inherited a “variant” in the gene for X-linked adrenoleukodystrophy?

If a person inherits a "variant of uncertain significance" in the gene associated with adrenoleukodystrophy, ABCD1, this means that we see a change in the gene, but we are unsure if the change will actually have an effect on the person. Further research will be needed to see if a genetic change is disease-causing or if it is benign. If a person learns they have a variant of uncertain significance, their diagnosis and medical management would be based on symptoms and blood testing for very long chain fatty acids in the blood.

Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015. http://www.ncbi.nlm.nih.gov/books/NBK1315/

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