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Genetics and Inheritance of NF Type 2

What causes NF2?

Neurofibromatosis type 2 (NF2) is caused by a change in the NF2 gene (also called Merlin), which is found on chromosome 22. Some people have features of NF2 that are limited to only one part of their body. This is called mosaic NF2. Mosaic NF2 is caused by changes in the NF2 gene, but genetic testing for people with this form of NF2 can be more complicated than for people who do not have a mosaic form of NF2.

Can NF2 be passed on in families?

Some people with NF2 inherited a change in the NF2 gene from one of their parents. Some people with NF2 are the first person in their family to be affected with this condition, so have a new change in the NF2 gene. No matter if the NF2 gene change was inherited from a parent or is newly affected, every person who has an NF2 gene change has a 50% chance of passing this change on every time they have a child.

Is genetic testing for NF2 available?

Genetic testing for the NF2 gene is available and can be coordinated for families in which testing would be appropriate. It is a good idea for anyone with questions about inheriting NF2, passing NF2 on to a child, or having genetic testing for NF2 to meet with a genetic counselor to learn more about their individual case.

If you have questions regarding genetic testing or genetic counseling for NF2, please contact us for a consultation with a genetic counselor.

For more information, contact the Johns Hopkins Comprehensive Neurofibromatosis (NF) Center at 410-502-6732.


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