Alagille syndrome

Inheritance

How is Alagille syndrome inherited?

Alagille syndrome is inherited in an "autosomal dominant" manner. We each typically have twp copies of every gene in our body. Genes provide instructions to our cells to make the items that our bodies need to grow and function. When there is a change or spelling mistake (also known as a mutation) in a gene, that gene may not work as well as it is supposed to or may not work at all. "Autosomal dominant" inheritance means that a change in one of the two copies of the gene involved in Alagille syndrome is enough to cause the condition. Since we pass on one copy of each gene to our children when we have babies, a person with Alagille syndrome has a 50% chance of passing on the genetic change causing the condition to each of their children.

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What does it mean to have inherited a "variant" in the gene for Alagille syndrome?

Are there forms of Alagille syndrome that aren't genetic?

What does it mean to have inherited a "variant" in the gene for Alagille syndrome?

Everyone has spelling differences in their genes. That's what makes us all different! A "variant" is a genetic spelling difference that has never been seen before or is not understood very well. If you have inherited a "variant" in JAG1 or NOTCH2, it means that there is a difference in how your JAG1 or NOTCH2 gene is spelled, but that we don't yet know if this difference makes the gene work less or if it is just the way your JAG1 or NOTCH2 gene is normally spelled.

Since Alagille syndrome is inherited in an "autosomal dominant" manner, a change in one copy of your JAG1 or NOTCH2 gene is enough to cause the condition. If you have symptoms of Alagille syndrome and you have a variant in JAG1 or NOTCH2, it makes it more likely that the variant is a change that causes the gene to work less or not at all. If you have a variant in JAG1 or NOTCH2 and don't have symptoms of Alagjlle syndrome, it makes it less likely (but not impossible) that the variant is causing the gene to work less or not at all.

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Are there forms of Alagille syndrome that aren't genetic?

As far as we know, Alagille syndrome is always a genetic condition. While there are some people with Alagille syndrome that do not have a change or mutation in JAG1 or NOTCH2 found on the genetic tests, that is probably because our tests are not able to find all mutation. These patients very likely have a genetic cause that we just can't find yet.

References

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