What causes schwannomatosis?
In some families, more than one person has been diagnosed with schwannomatosis. This is referred to as a familial case of schwannomatosis. In some families, only one person has been diagnosed with schwannomatosis. This is referred to as a sporadic case of schwannomatosis. Some people have features of schwannomatosis that are limited to only one part of their body. This is called mosaic schwannomatosis (also called segmental schwannomatosis).
A gene called INI1 (also called SMARCB2) is often found to be the cause of familial schwannomatosis. Sporadic and mosaic schwannomatosis can also be caused by the INI1 gene. However, for many people with sporadic or mosaic schwannomatosis, the INI1 gene is not the cause of their condition. As yet, there have been no other genes found to cause schwannomatosis.
Can schwannomatosis be passed on in families?
Since the genetics of schwannomatosis are not clearly understood right now, it can be difficult in some families to determine who might be at risk of developing symptoms of this condition.
Is genetic testing for schwannomatosis available?
Genetic testing for the INI1 gene is available and can be coordinated for families in which testing would be appropriate. For people with mosaic schwannomatosis, genetic testing can be more complicated than for people who do not have a mosaic form of this condition. It is a good idea for anyone with questions about genetic testing and the possible risk of developing schwannomatosis to meet with a genetic counselor to learn more about their individual case.
If you have questions regarding genetic testing or genetic counseling for schwannomatosis, please contact us for a consultation with a genetic counselor.