Aniridia

Inheritance

How is Aniridia inherited?

Aniridia is an autosomal dominant disorder: it affects both males and females, and only one copy of the changed gene is needed to cause the disorder. While most affected individuals have an affected parent, in some the mutation is new.

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If I have Aniridia, will my child have Aniridia?

Can someone have a mutation/change in both of their PAX6 genes?

What does it mean clinically if someone were to have a mutation/change in both of their PAX6 genes?

If I have Aniridia, will my child have Aniridia?

If a parent has Aniridia caused by a mutated PAX6 gene, a child has a 50% chance of inheriting Aniridia and a 50% chance of not.

Can someone have a mutation/change in both of their PAX6 genes?

If both parents have Aniridia, a child may inherit two copies of the mutated PAX6 gene. This causes a more severe condition, and is fatal.

What does it mean clinically if someone were to have a mutation/change in both of their PAX6 genes?

If someone is in fact homozygous for mutations in the PAX6 gene--if both of her genes are mutated--severe abnormalities result: deformed skull and facial bones, an absent or malformed nose, absent adrenal glands, central nervous system abnormalities, absence of one or both eyes, and neonatal death.

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