Is Marfan syndrome inherited?

Marfan's syndrome is inherited autosomal dominantly in families. Around 75 per cent of people with
Marfan syndrome have a parent who also has the disorder (inherited). About 25 per cent of people with
Marfan syndrome have the disorder as a result of a recent (de novo) mutation. When a parent has
Marfan syndrome, each of his or her offspring has a 50 percent risk of inheriting the FBN1 gene (1 risk in
2). While Marfan syndrome is not always hereditary, it is still heritable.

If a child with Marfan syndrome is born to parents who don't have Marfan syndrome characteristics, a
new mutation is likely to occur with the infant. In this family situation, there is less than 50 percent risk
of potential siblings (the child's brothers and sisters with Marfan syndrome) being born with Marfan
syndrome. Yet the risk is nevertheless higher than the chance of 1 in 10,000 for the general population.
The risk for siblings is greater as there are rare families where one parent's germline cells (tests or
ovaries) have a Marfan gene mutation.

Marfan syndrome prenatal testing is available when the gene mutation is identified, and also through a
method called linkage analysis (tracking the Marfan syndrome gene in a family through genetic
markers).

Inheritance

Marfan syndrome has an autosomal dominant inheritance. Every single individual inherits two copies of
each gene. In autosomal dominant conditions, an individual has a mutation that causes the disease in
only one copy of the gene that causes the person to get the disease. The mutation can be inherited from
a parent, or can happen in an adult for the first time.

Growing child of an adult with Marfan syndrome has a 50 percent chance of the mutation and condition
being inherited. The offspring inheriting the mutation will have Marfan syndrome while they may be
more or less seriously affected than their parent
Is Marfan syndrome inherited?

Marfan's syndrome is inherited autosomal dominantly in families. Around 75 per cent of people with
Marfan syndrome have a parent who also has the disorder (inherited). About 25 per cent of people with
Marfan syndrome have the disorder as a result of a recent (de novo) mutation. When a parent has
Marfan syndrome, each of his or her offspring has a 50 percent risk of inheriting the FBN1 gene (1 risk in
2). While Marfan syndrome is not always hereditary, it is still heritable.

If a child with Marfan syndrome is born to parents who don't have Marfan syndrome characteristics, a
new mutation is likely to occur with the infant. In this family situation, there is less than 50 percent risk
of potential siblings (the child's brothers and sisters with Marfan syndrome) being born with Marfan
syndrome. Yet the risk is nevertheless higher than the chance of 1 in 10,000 for the general population.
The risk for siblings is greater as there are rare families where one parent's germline cells (tests or
ovaries) have a Marfan gene mutation.

Marfan syndrome prenatal testing is available when the gene mutation is identified, and also through a
method called linkage analysis (tracking the Marfan syndrome gene in a family through genetic
markers).