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Genetics and Inheritance of NF Type 1

What causes NF1?

Neurofibromatosis type 1 (NF1) is caused by a change in the NF1 gene, which is found on chromosome 17. Some people have features of NF1 that are limited to only one part of their body. This is called mosaic NF1 (also called segmental NF1). Mosaic NF1 is caused by changes in the NF1 gene, but genetic testing for people with this form of NF1 can be more complicated than for people who do not have a mosaic form of NF1.

Can NF1 be passed on in families?

Some people with NF1 inherited a change in the NF1 gene from one of their parents. Some people with NF1 are the first person in their family to be affected with this condition, so have a new change in the NF1 gene. No matter if the NF1 gene change was inherited from a parent or is newly affected, every person who has an NF1 gene change has a 50% chance of passing this change on every time they have a child.

Is genetic testing for NF1 available?

Genetic testing for the NF1 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 NF1, passing NF1 on to a child, or having genetic testing for NF1 to meet with a genetic counselor to learn more about their individual case.

If you have questions regarding genetic testing or genetic counseling for the NF1 gene, please contact us for an appointment.

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